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AnnotSV ID ACMG classSV ranking class (from 1 to 5) following the 2020 joint consensus recommendation of ACMG and ClinGen SV typeType of the SV (DEL, DUP...) Annotation modeType of annotation lines generated:
- annotation on the SV full length (full)
- annotation on each gene overlapped by the SV (split)
Gene nameGene symbol LocationHover your mouse to highlight SV location annotations in the gene OMIM IDHover your mouse to highlight OMIM annotations Exomiser scoreShow how close each overlapped gene is to the patient phenotype
Highly specific and consistent phenotype: score > 0.7
Consistent phenotype: score > 0.5
PhenoGenius specificityPhenotype specificity into one of A, B, C, D or . :
A - Highly specific and relatively unique to the gene
B - Consistent with the gene, highly specific, but not necessarily unique to the gene
C - Limited association with the gene, not highly specific and/or with high genetic heterogeneity
D - Not consistent with what is expected for the gene/genomic region or not consistent in general
. - No reported phenotype
Overlapped regulatory elementsReport the name of the genes potentially badly regulated Pathogenic SVKnown pathogenic genes or genomic regions (with the same SV type; from ClinVar, ClinGen, dbVar, OMIM) completely overlapped with the SV to annotate Number of pathogenic SNV/indel overlappedPathogenic SNV/indel (from ClinVar) completely overlapped with the SV to annotate Benign SVBenign genomic regions (with the same SV type; from gnomAD, ClinVar, ClinGen, DGV, DDD, 1000g, IMH) completely overlapping the SV to annotate Left breakpoint annotationsHover your mouse to highlight the left SV breakpoint (+/- 100bp) annotations Right breakpoint annotationsHover your mouse to highlight the right SV breakpoint (+/- 100bp) annotations Samples_ID ID REF ALT QUAL FILTER INFO FORMAT CHM13 HG00438 HG00621 HG00673 HG00733 HG00735 HG00741 HG01071 HG01106 HG01109 HG01123 HG01175 HG01243 HG01258 HG01358 HG01361 HG01891 HG01928 HG01952 HG01978 HG02055 HG02080 HG02109 HG02145 HG02148 HG02257 HG02486 HG02559 HG02572 HG02622 HG02630 HG02717 HG02723 HG02818 HG02886 HG03098 HG03453 HG03486 HG03492 HG03516 HG03540 HG03579 NA18906 NA20129 NA21309
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 2
fullAnnotation_mode : full
OR9Q1; LOC124902674; [...2genes]Gene_name : OR9Q1; LOC124902674;
LOEUF_bin : 8
GnomAD_pLI : 8.3932e-04
ExAC_pLI : 8.5949e-03
HI : .
TS : .
DDD_HI_percent : 74.98
ExAC_cnvZ : 0.94132383107999
ExAC_delZ : 0.610435651793837
ExAC_dupZ : 0.778331213061086
ExAC_synZ : -0.325533579585078
ExAC_misZ : -1.25506850987698
Closest_left : OR6Q1
Closest_right : OR9I1
.Location : .
CytoBand : q12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095
po_P_loss_coord : 11:11814023-118502397
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 11:58050777-58051777 CMRI:101_pbsv.DEL.1149_duplicate4; chr11:58051196-58052191 HPRC:pbsv.DEL.4354;
po_B_loss_someG_coord : chr11:58050631-58051631 dbVar; 11:58051196-58052191 CMRI:2_pbsv.DEL.1100_duplicate3; 11:58051456-58052455 CMRI:89_pbsv.DEL.1079_duplicate4
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:58048700-58051607
Repeat_type_left : L1PA2
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:58051585-58052607
Repeat_type_right : L1PA2
Gap_right : .
GC_content_right : 0.370
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>51773841>51773839ID : >51773841>51773839
GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAA[...]REF : GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGAGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCCATCAAATAGTGGGCGAAG
GALT : G
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>51773841>517738[...]INFO : AC=89; AF=1; AN=89; AT=>51773841>51773840>51773839,>51773841>51773839; LV=0; NS=45; e=58051788; s=1000; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
OR9Q1Gene_name : OR9Q1;
LOEUF_bin : 8
GnomAD_pLI : 8.3932e-04
ExAC_pLI : 8.5949e-03
HI : .
TS : .
DDD_HI_percent : 74.98
ACMG : .
ExAC_cnvZ : 0.94132383107999
ExAC_delZ : 0.610435651793837
ExAC_dupZ : 0.778331213061086
ExAC_synZ : -0.325533579585078
ExAC_misZ : -1.25506850987698
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 219956
intron1-intron1Location : intron1-intron1
CytoBand : q12.1
Location2 : 5'UTR
Tx : NM_001005212
Tx_version : 4
Tx_start : 58023880
Tx_end : 58181616
Exon_count : 3
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4082
Nearest_SS_type : 3'
Intersect_start : 58050787
Intersect_end : 58051787
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>51773841>51773839ID : >51773841>51773839
GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAA[...]REF : GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGAGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCCATCAAATAGTGGGCGAAG
GALT : G
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>51773841>517738[...]INFO : AC=89; AF=1; AN=89; AT=>51773841>51773840>51773839,>51773841>51773839; LV=0; NS=45; e=58051788; s=1000; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
LOC124902674Gene_name : LOC124902674;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : q12.1
Location2 : UTR
Tx : XR_007062672
Tx_version : 1
Tx_start : 58047137
Tx_end : 58057935
Exon_count : 2
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3240
Nearest_SS_type : 3'
Intersect_start : 58050787
Intersect_end : 58051787
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>51773841>51773839ID : >51773841>51773839
GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAA[...]REF : GGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGAGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACCCCATCAAATAGTGGGCGAAG
GALT : G
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>51773841>517738[...]INFO : AC=89; AF=1; AN=89; AT=>51773841>51773840>51773839,>51773841>51773839; LV=0; NS=45; e=58051788; s=1000; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 298
Gene_count : 1
fullAnnotation_mode : full
DOP1BGene_name : DOP1B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124905016
Closest_right : LOC124905072
.Location : .
CytoBand : q22.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136031; dbVar:nssv15148957; dbVar:nssv15146956; dbVar:nssv15145768; dbVar:nssv15148100; dbVar:nssv15132871; dbVar:nssv15131821
po_P_loss_coord : 21:7749533-37653653; 21:7817159-46670440; 21:14166335-46661014; 21:34155653-42878410; 21:34789954-46636538; 21:35543873-39993338; 21:35772178-38558509
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 21:36215733-36216025; 21:36216031-36216323
Repeat_type_left : AluSg; AluSg
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 21:36216031-36216323; 21:36216329-36216622
Repeat_type_right : AluSg; AluSx
Gap_right : .
GC_content_right : 0.480
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>75745382>75745384ID : >75745382>75745384
ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACC[...]REF : ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAGAAAAGAAATTTGCGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCA
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>75745382>757453[...]INFO : AC=89; AF=1; AN=89; AT=>75745382>75745383>75745384,>75745382>75745384; LV=0; NS=45; e=36216391; s=298; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 298
splitAnnotation_mode : split
DOP1BGene_name : DOP1B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9980
intron9-intron9Location : intron9-intron9
CytoBand : q22.12
Location2 : UTR
Tx : XR_007067795
Tx_version : 1
Tx_start : 36156823
Tx_end : 36263632
Exon_count : 26
Overlapped_tx_length : 298
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1536
Nearest_SS_type : 5'
Intersect_start : 36216092
Intersect_end : 36216390
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>75745382>75745384ID : >75745382>75745384
ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACC[...]REF : ATGAGGTCAGGAGTTCAGGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAGAAAAGAAATTTGCGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCA
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>75745382>757453[...]INFO : AC=89; AF=1; AN=89; AT=>75745382>75745383>75745384,>75745382>75745384; LV=0; NS=45; e=36216391; s=298; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 262
Gene_count : 1
fullAnnotation_mode : full
ZNF573Gene_name : ZNF573;
LOEUF_bin : 7
GnomAD_pLI : 1.9945e-11
ExAC_pLI : 9.4300e-09
HI : .
TS : .
DDD_HI_percent : 87.25
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.357435839553518
ExAC_misZ : -0.657321099182888
Closest_left : ZNF607
Closest_right : LOC105372394
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15134491; dbVar:nssv15136228
po_P_loss_coord : 19:29661859-38114723; 19:29671325-37902990
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr19:37747072-37747334 HPRC:pbsv.DEL.4559
po_B_loss_someG_coord : 19:37747072-37747334 CMRI:0_pbsv.DEL.736_duplicate7
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 19:37746883-37747707
Repeat_type_left : L1MD3
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 19:37746883-37747707
Repeat_type_right : L1MD3
Gap_right : .
GC_content_right : 0.310
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>70628738>70628740ID : >70628738>70628740
TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAAT[...]REF : TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCTATCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>70628738>706287[...]INFO : AC=89; AF=1; AN=89; AT=>70628738>70628739>70628740,>70628738>70628740; CONFLICT=HG01978; LV=0; NS=45; e=37747464; s=262; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 262
splitAnnotation_mode : split
ZNF573Gene_name : ZNF573;
LOEUF_bin : 7
GnomAD_pLI : 1.9945e-11
ExAC_pLI : 9.4300e-09
HI : .
TS : .
DDD_HI_percent : 87.25
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.357435839553518
ExAC_misZ : -0.657321099182888
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 126231
intron5-intron5Location : intron5-intron5
CytoBand : q13.12
Location2 : CDS
Tx : NM_001172689
Tx_version : 2
Tx_start : 37738301
Tx_end : 37779586
Exon_count : 6
Overlapped_tx_length : 262
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7007
Nearest_SS_type : 3'
Intersect_start : 37747201
Intersect_end : 37747463
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>70628738>70628740ID : >70628738>70628740
TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAAT[...]REF : TGTCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCTATCTGAAGTTGAAACGGTATGGGTGGCAAAAGAAGTAATGTAATATTTGATTCTACCTTGAAGTATAAAACAAATATAAATGAGTCTACACTGATATGAGAAGAAACAAATATGTCTTATAGAAGAATTCT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>70628738>706287[...]INFO : AC=89; AF=1; AN=89; AT=>70628738>70628739>70628740,>70628738>70628740; CONFLICT=HG01978; LV=0; NS=45; e=37747464; s=262; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6113
Gene_count : 1
fullAnnotation_mode : full
LINC00824Gene_name : LINC00824;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124902020
Closest_right : LOC124902021
.Location : .
CytoBand : q24.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18330293; dbVar:nssv15772694; dbVar:nssv15776010; dbVar:nssv16208202; dbVar:nssv15127815; dbVar:nssv15141345
po_P_loss_coord : 8:111222329-132656133; 8:122062055-130101646; 8:123108533-134253603; 8:125880571-142668610; 8:126626362-143306390; 8:127283352-132188526
po_P_loss_percent : 0.03; 0.08; 0.05; 0.04; 0.04; 0.12
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr8:128452907-128459020 HPRC:pbsv.DEL.8981;
po_B_loss_someG_coord : 8:128452907-128459020 CMRI:0_pbsv.DEL.1595_duplicate2; chr8:128452907-128459020 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 8:128452680-128452887; 8:128452918-128453002; 8:128453003-128459020
Repeat_type_left : MIRb; (T)n; L1HS
Gap_left : .
GC_content_left : 0.250
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 8:128453003-128459020
Repeat_type_right : L1HS
Gap_right : .
GC_content_right : 0.450
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>39955489>39955486ID : >39955489>39955486
GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTT[...]REF : GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTGACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTGGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTCTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCAGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTCTCAGATCTCCAGCTGCCTCCTGGGAGAACCACTGCTCTCTTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCATGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCCCAGCTTGTG
GALT : G
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>39955489>399554[...]INFO : AC=89; AF=1; AN=89; AT=>39955489>39955488>39955487>39955486,>39955489>39955486; LV=0; NS=45; e=128459030; s=6113; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6113
splitAnnotation_mode : split
LINC00824Gene_name : LINC00824;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927774
intron2-intron2Location : intron2-intron2
CytoBand : q24.21
Location2 : UTR
Tx : NR_121672
Tx_version : 1
Tx_start : 128405268
Tx_end : 128564679
Exon_count : 8
Overlapped_tx_length : 6113
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 24532
Nearest_SS_type : 3'
Intersect_start : 128452916
Intersect_end : 128459029
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>39955489>39955486ID : >39955489>39955486
GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTT[...]REF : GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTCAGTCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTGACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTGGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTCTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCAGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTCTCAGATCTCCAGCTGCCTCCTGGGAGAACCACTGCTCTCTTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCATGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCCCAGCTTGTG
GALT : G
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>39955489>399554[...]INFO : AC=89; AF=1; AN=89; AT=>39955489>39955488>39955487>39955486,>39955489>39955486; LV=0; NS=45; e=128459030; s=6113; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (RBPMS, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 304
Gene_count : 1
fullAnnotation_mode : full
RBPMSGene_name : RBPMS;
LOEUF_bin : 1
GnomAD_pLI : 9.7173e-01
ExAC_pLI : 7.8317e-01
HI : .
TS : .
DDD_HI_percent : 8.27
ExAC_cnvZ : 1.01162985861069
ExAC_delZ : 0.890125306525941
ExAC_dupZ : 0.757107035545286
ExAC_synZ : 0.212941066706018
ExAC_misZ : 2.39849992190521
Closest_left : LOC124901929
Closest_right : GTF2E2
.Location : .
CytoBand : p12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSR (morbid/RE=EA_enhancer); TEX15 (morbid/RE[...]RE_gene : GSR (morbid/RE=EA_enhancer); TEX15 (morbid/RE=EA_enhancer); GTF2E2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15125508; dbVar:nssv15146037; dbVar:nssv15121705; dbVar:nssv15119973; dbVar:nssv15134674; dbVar:nssv18330735; dbVar:nssv15135095; dbVar:nssv15154573
po_P_loss_coord : 8:15235843-32389216; 8:18972997-33619264; 8:24910365-31196357; 8:24910365-31210737; 8:25171104-31750600; 8:26951453-38488865; 8:29362098-40231708; 8:30477609-33912552
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 8:30534760-30535064 CMRI:0_pbsv.DEL.609_duplicate2; chr8:30534760-30535064 dbVar; chr8:30534761-30535064 dbVar
po_B_loss_someG_coord : chr8:30534475-30535067 gnomAD-SV_v3_DEL_chr8_44ab6ae7; chr8:30534760-30535064 HPRC:pbsv.DEL.3573; 8:30534761-30535064 1000g
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 8:30534774-30535060
Repeat_type_left : AluYb8
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 8:30534774-30535060
Repeat_type_right : AluYb8
Gap_right : .
GC_content_right : 0.380
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>37934001>37933999ID : >37934001>37933999
TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG[...]REF : TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>37934001>379340[...]INFO : AC=89; AF=1; AN=89; AT=>37934001>37934000>37933999,>37934001>37933999; LV=0; NS=45; e=30535070; s=304; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 304
splitAnnotation_mode : split
RBPMSGene_name : RBPMS;
LOEUF_bin : 1
GnomAD_pLI : 9.7173e-01
ExAC_pLI : 7.8317e-01
HI : .
TS : .
DDD_HI_percent : 8.27
ACMG : .
ExAC_cnvZ : 1.01162985861069
ExAC_delZ : 0.890125306525941
ExAC_dupZ : 0.757107035545286
ExAC_synZ : 0.212941066706018
ExAC_misZ : 2.39849992190521
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11030
intron5-intron5Location : intron5-intron5
CytoBand : p12
Location2 : CDS
Tx : XM_017012984
Tx_version : 2
Tx_start : 30384540
Tx_end : 30545157
Exon_count : 6
Overlapped_tx_length : 304
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 9424
Nearest_SS_type : 3'
Intersect_start : 30534765
Intersect_end : 30535069
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>37934001>37933999ID : >37934001>37933999
TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG[...]REF : TGATAACTACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>37934001>379340[...]INFO : AC=89; AF=1; AN=89; AT=>37934001>37934000>37933999,>37934001>37933999; LV=0; NS=45; e=30535070; s=304; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (EPHA4, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 299
Gene_count : 1
fullAnnotation_mode : full
EPHA4Gene_name : EPHA4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9989e-01
HI : .
TS : .
DDD_HI_percent : 1.13
ExAC_cnvZ : 0.983574223167158
ExAC_delZ : 1.13727799129132
ExAC_dupZ : 0.637577531401268
ExAC_synZ : -0.0279108286767267
ExAC_misZ : 3.34532988891912
Closest_left : LOC107985990
Closest_right : LOC105373897
.Location : .
CytoBand : q36.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15153047; dbVar:nssv15152717; dbVar:nssv17969813; dbVar:nssv15147116; dbVar:nssv17650001; dbVar:nssv15163352; dbVar:nssv15152713; dbVar:nssv15152711; dbVar:nssv15124274
po_P_loss_coord : 2:50659295-242160331; 2:216509422-226778904; 2:217948712-226585983; 2:218741815-238309062; 2:219081621-225430308; 2:219192170-226300101; 2:219744077-223353038; 2:219750022-224723053; 2:220574530-225305687; 2:221285587-222309411
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr2_d8522047B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659; chr2:221505295-221537512
B_loss_AFmax : 0.0146
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr2:221505295-221537512 dbVar; 2:221523565-221523863 esv2657184
po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; 2:221523564-221523863 CMRI:4_pbsv.DEL.3989
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:221523293-221523586; 2:221523605-221523885
Repeat_type_left : AluSp; AluSz
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:221523605-221523885; 2:221523894-221523931
Repeat_type_right : AluSz; L2c
Gap_right : .
GC_content_right : 0.475
CHM13,HG01109Samples_ID : CHM13,HG01109
>11843673>11843675ID : >11843673>11843675
CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCC[...]REF : CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCATCTCTGAGGTTCCAGAAATTCTCCTGCTTCAGCCTTCTGGGTAGCTGAGATTACAGACGTGTGCCACCATGCCTGGCTAATATTTTTTGCATTTTTAAGAGAGACAAGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAAATGACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCC
CALT : C
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>11843673>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11843673>11843674>11843675,>11843673>11843675; LV=0; NS=45; e=221523880; s=299; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 299
splitAnnotation_mode : split
EPHA4Gene_name : EPHA4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9989e-01
HI : .
TS : .
DDD_HI_percent : 1.13
ACMG : .
ExAC_cnvZ : 0.983574223167158
ExAC_delZ : 1.13727799129132
ExAC_dupZ : 0.637577531401268
ExAC_synZ : -0.0279108286767267
ExAC_misZ : 3.34532988891912
GenCC_disease : complex neurodevelopmental disorder
GenCC_moi : AD
GenCC_classification : Disputed Evidence
GenCC_pmid : 19344873; 26537360; 28135719; 30542205
NCBI_gene_ID : 2043
intron2-intron2Location : intron2-intron2
CytoBand : q36.1
Location2 : CDS
Tx : NM_001304537
Tx_version : 2
Tx_start : 221418026
Tx_end : 221572304
Exon_count : 17
Overlapped_tx_length : 299
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 22408
Nearest_SS_type : 3'
Intersect_start : 221523580
Intersect_end : 221523879
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr2_d8522047B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659; chr2:221505295-221537512
B_loss_AFmax : 0.0146
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01109Samples_ID : CHM13,HG01109
>11843673>11843675ID : >11843673>11843675
CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCC[...]REF : CTGGCCAGAATATTTTTTAGTAACTTTTTTTGAGACAGAGCCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCCCGGCTCACTGCAACCTCCATCTCTGAGGTTCCAGAAATTCTCCTGCTTCAGCCTTCTGGGTAGCTGAGATTACAGACGTGTGCCACCATGCCTGGCTAATATTTTTTGCATTTTTAAGAGAGACAAGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAAATGACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCC
CALT : C
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>11843673>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11843673>11843674>11843675,>11843673>11843675; LV=0; NS=45; e=221523880; s=299; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 304
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PLD2
Closest_right : MINK1
.Location : .
CytoBand : p13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15138614; dbVar:nssv16208665; dbVar:nssv15134732; dbVar:nssv15132711; dbVar:nssv15134408; dbVar:nssv15133287; dbVar:nssv15159053; dbVar:nssv15132964; dbVar:nssv15134167
po_P_loss_coord : 17:150733-5935377; 17:158757-5724088; 17:162017-7697012; 17:162089-6959050; 17:193308-5652222; 17:2062381-5258340; 17:3432869-5015163; 17:3601516-7178024; 17:4044303-5943772
po_P_loss_percent : 0.01; 0.01; 0.00; 0.00; 0.01; 0.01; 0.02; 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 17:4830670-4830974 CMRI:2_pbsv.DEL.339_duplicate9
po_B_loss_someG_coord : chr17:4830384-4830689 HPRC:pbsv.DEL.1518
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 17:4830385-4830688; 17:4830689-4830993
Repeat_type_left : AluSx1; AluSx1
Gap_left : .
GC_content_left : 0.475
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 17:4831018-4833067; 17:4831018-4833067; 17:4831018-4833067; 17:4831018-4833067
Repeat_coord_right : 17:4830689-4830993; 17:4830994-4831043; 17:4831045-4831328
Repeat_type_right : AluSx1; AluSx; AluSq
Gap_right : .
GC_content_right : 0.480
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>67208914>67208912ID : >67208914>67208912
AAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTT[...]REF : AAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTTTTTTTTTTTTTTTTGAGACGTTGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCATCGGCATCCCGAATAGCTGGGATTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCCAAA
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>67208914>672089[...]INFO : AC=89; AF=1; AN=89; AT=>67208914>67208913>67208912,>67208914>67208912; LV=0; NS=45; e=4830955; s=304; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 112
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PROKR1
Closest_right : ARHGAP25
.Location : .
CytoBand : p13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15137739; dbVar:nssv15605769
po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:64587096-69876311; 2:67264247-69452272
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr2:68678622-68678732 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:68677862-68680074
Repeat_type_left : L1PA3
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:68677862-68680074
Repeat_type_right : L1PA3
Gap_right : .
GC_content_right : 0.405
CHM13,HG02055,NA20129Samples_ID : CHM13,HG02055,NA20129
>7371595>7371597ID : >7371595>7371597
TGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCC[...]REF : TGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCCCGTCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATGTCTTGGAG
TALT : T
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>7371595>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>7371595>7371596>7371597,>7371595>7371597; LV=0; NS=45; e=68678732; s=112; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|1HG02055 : 0|1
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 354
Gene_count : 3
fullAnnotation_mode : full
CAST; LOC101929710; LOC105379096; [...3genes]Gene_name : CAST; LOC101929710; LOC105379096;
LOEUF_bin : 4
GnomAD_pLI : 4.1218e-12
ExAC_pLI : 1.5558e-06
HI : .
TS : .
DDD_HI_percent : 41.16
ExAC_cnvZ : 0.337956608066878
ExAC_delZ : 0.329830436621992
ExAC_dupZ : 0.269758724720572
ExAC_synZ : -0.324923256966859
ExAC_misZ : -1.73245443164327
Closest_left : ELL2
Closest_right : MIR583
.Location : .
CytoBand : q15
114090; OMIM_ID : 114090;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15138006; dbVar:nssv15143209; nssv17976344; dbVar:nssv15132311; dbVar:nssv15121951; dbVar:nssv15138054; dbVar:nssv15120743; dbVar:nssv15139660; dbVar:nssv15152898; dbVar:nssv15138529; dbVar:nssv15138770; dbVar:nssv17970039; dbVar:nssv18790898; dbVar:nssv15142185
po_P_loss_coord : 5:17628633-177148719; 5:84603581-111435081; 5:87104184-154620440; 5:87376884-101524443; 5:89081353-104687248; 5:90374607-128076423; 5:91386553-98365880; 5:91411709-131319563; 5:92208285-105522647; 5:92899735-119614119; 5:93193105-113287795; 5:94314296-115633411; 5:95464608-96771679; 5:95714263-104201888
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.03; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108
B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961
B_loss_AFmax : 0.9903
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 5:96007607-96007961 CMRI:0_pbsv.DEL.1242_duplicate2; chr5:96007607-96007961 dbVar; chr5:96007608-96007961 dbVar;
po_B_loss_someG_coord : chr5:96007311-96007961 gnomAD-SV_v3_DEL_chr5_aabe3108; chr5:96007607-96007961 HPRC:pbsv.DEL.7211; 5:96007608-96007961 1000g; chr5:96007622-96007977 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 5:96007452-96007623; 5:96007624-96007935
Repeat_type_left : MLT1A; AluYa5
Gap_left : .
GC_content_left : 0.555
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 5:96007624-96007935; 5:96007936-96008174
Repeat_type_right : AluYa5; MLT1A
Gap_right : .
GC_content_right : 0.405
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>25921153>25921155ID : >25921153>25921155
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 354
splitAnnotation_mode : split
CASTGene_name : CAST;
LOEUF_bin : 4
GnomAD_pLI : 4.1218e-12
ExAC_pLI : 1.5558e-06
HI : .
TS : .
DDD_HI_percent : 41.16
ACMG : .
ExAC_cnvZ : 0.337956608066878
ExAC_delZ : 0.329830436621992
ExAC_dupZ : 0.269758724720572
ExAC_synZ : -0.324923256966859
ExAC_misZ : -1.73245443164327
GenCC_disease : peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 25683118; 25683118[PMID]; 28851602
NCBI_gene_ID : 831
intron1-intron1Location : intron1-intron1
CytoBand : q15
Location2 : UTR
Tx : NR_186779
Tx_version : 1
Tx_start : 95961428
Tx_end : 96381455
Exon_count : 6
Overlapped_tx_length : 354
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 46020
Nearest_SS_type : 5'
Intersect_start : 96007606
Intersect_end : 96007960
114090; OMIM_ID : 114090;
OMIM_phenotype : Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108
B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961
B_loss_AFmax : 0.9903
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>25921153>25921155ID : >25921153>25921155
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 354
splitAnnotation_mode : split
LOC101929710Gene_name : LOC101929710;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : q15
Location2 : UTR
Tx : NR_130776
Tx_version : 1
Tx_start : 95962000
Tx_end : 96631085
Exon_count : 5
Overlapped_tx_length : 354
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 45570
Nearest_SS_type : 5'
Intersect_start : 96007606
Intersect_end : 96007960
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108
B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961
B_loss_AFmax : 0.9903
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>25921153>25921155ID : >25921153>25921155
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 354
splitAnnotation_mode : split
LOC105379096Gene_name : LOC105379096;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : q15
Location2 : UTR
Tx : XR_001742447
Tx_version : 2
Tx_start : 95986265
Tx_end : 96072467
Exon_count : 4
Overlapped_tx_length : 354
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 19419
Nearest_SS_type : 3'
Intersect_start : 96007606
Intersect_end : 96007960
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1242_duplicate2; HPRC:pbsv.DEL.7211; dbVar; gnomAD-SV_v3_DEL_chr5_aabe3108
B_loss_coord : chr5:96007311-96007961; 5:96007607-96007961; chr5:96007607-96007961; chr5:96007607-96007961
B_loss_AFmax : 0.9903
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>25921153>25921155ID : >25921153>25921155
TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAA[...]REF : TAAGAAGAGGAAGATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>25921153>259211[...]INFO : AC=89; AF=1; AN=89; AT=>25921153>25921154>25921155,>25921153>25921155; LV=1; NS=45; PS=>25662516>25796736; e=96007961; s=354; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 374
Gene_count : 2
fullAnnotation_mode : full
LOC105370906; LINGO1; [...2genes]Gene_name : LOC105370906; LINGO1;
LOEUF_bin : 0
GnomAD_pLI : 9.9413e-01
ExAC_pLI : 9.5212e-01
HI : .
TS : .
DDD_HI_percent : 14.58
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.309270287685539
ExAC_misZ : 4.23412300392008
Closest_left : LOC101929457
Closest_right : LINGO1-AS1
.Location : .
CytoBand : q24.3
609791; OMIM_ID : 609791;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AR 64, 618103 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv15145986; dbVar:nssv15136327; morbid:LINGO1
po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:70025301-78705993; 15:76006155-79982417; 15:77613027-77820900
po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.18
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL.3897; dbVar
B_loss_coord : 15:77618519-77618893; chr15:77618519-77618893; chr15:77618519-77618893
B_loss_AFmax : 1.0000
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr15:56865558-77618525 gnomAD-SV_v3_DEL_chr15_c4d4814a; chr15:77618519-77618893 HPRC:pbsv.DEL.3897; 15:77618520-77618893 1000g;
po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca; 15:77618519-77618893 CMRI:0_pbsv.DEL.757_duplicate4; chr15:77618519-77618893 dbVar; chr15:77618520-77618893 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 15:77618529-77618607; 15:77618608-77618894
Repeat_type_left : (T)n; AluYa5
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 15:77618608-77618894
Repeat_type_right : AluYa5
Gap_right : .
GC_content_right : 0.500
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
<61034927<61034929ID : <61034927<61034929
ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>61034929>610349[...]INFO : AC=89; AF=1; AN=89; AT=>61034929>61034928>61034927,>61034929>61034927; CONFLICT=NA18906; LV=0; NS=45; e=77618893; s=374; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 374
splitAnnotation_mode : split
LINGO1Gene_name : LINGO1;
LOEUF_bin : 0
GnomAD_pLI : 9.9413e-01
ExAC_pLI : 9.5212e-01
HI : .
TS : .
DDD_HI_percent : 14.58
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.309270287685539
ExAC_misZ : 4.23412300392008
GenCC_disease : intellectual disability, autosomal recessive 64
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : 15895088; 27457812; 28135719; 28805617; 28837161; 30842974
NCBI_gene_ID : 84894
intron1-intron1Location : intron1-intron1
CytoBand : q24.3
Location2 : CDS
Tx : NM_032808
Tx_version : 7
Tx_start : 77613026
Tx_end : 77632912
Exon_count : 2
Overlapped_tx_length : 374
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2618
Nearest_SS_type : 3'
Intersect_start : 77618518
Intersect_end : 77618892
609791; OMIM_ID : 609791;
OMIM_phenotype : Intellectual developmental disorder, AR 64, 618103 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL.3897; dbVar
B_loss_coord : 15:77618519-77618893; chr15:77618519-77618893; chr15:77618519-77618893
B_loss_AFmax : 1.0000
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
<61034927<61034929ID : <61034927<61034929
ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>61034929>610349[...]INFO : AC=89; AF=1; AN=89; AT=>61034929>61034928>61034927,>61034929>61034927; CONFLICT=NA18906; LV=0; NS=45; e=77618893; s=374; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 374
splitAnnotation_mode : split
LOC105370906Gene_name : LOC105370906;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron3-intron3Location : intron3-intron3
CytoBand : q24.3
Location2 : UTR
Tx : XR_001751806
Tx_version : 2
Tx_start : 77568858
Tx_end : 77630461
Exon_count : 4
Overlapped_tx_length : 374
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11392
Nearest_SS_type : 3'
Intersect_start : 77618518
Intersect_end : 77618892
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.757_duplicate4; HPRC:pbsv.DEL.3897; dbVar
B_loss_coord : 15:77618519-77618893; chr15:77618519-77618893; chr15:77618519-77618893
B_loss_AFmax : 1.0000
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
<61034927<61034929ID : <61034927<61034929
ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : ACTGTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>61034929>610349[...]INFO : AC=89; AF=1; AN=89; AT=>61034929>61034928>61034927,>61034929>61034927; CONFLICT=NA18906; LV=0; NS=45; e=77618893; s=374; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 305
Gene_count : 1
fullAnnotation_mode : full
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
Closest_left : LOC124904885
Closest_right : ASXL1
.Location : .
CytoBand : q11.21
603754; OMIM_ID : 603754;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Retinitis pigmentosa 89, 618955 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; morbid:KIF3B
po_P_loss_coord : 20:32236739-47669019; 20:32301770-32335011
po_P_loss_percent : 0.00; 0.92
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL.2556; dbVar
B_loss_coord : 20:32311424-32311729; chr20:32311424-32311729; chr20:32311424-32311729
B_loss_AFmax : 0.9854
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:32311424-32311729 HPRC:pbsv.DEL.2556; 20:32311425-32311729 1000g; chr20:32311436-32311729 dbVar;
po_B_loss_someG_coord : 20:32311424-32311729 CMRI:0_pbsv.DEL.438_duplicate7; chr20:32311424-32311729 dbVar; chr20:32311425-32311729 dbVar; chr20:32311436-32311729 gnomAD-SV_v3_DEL_chr20_c52763b3
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32311436-32311730
Repeat_type_left : AluYa5
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32311436-32311730; 20:32311731-32311796; 20:32311797-32312101
Repeat_type_right : AluYa5; L1ME3E; AluSq2
Gap_right : .
GC_content_right : 0.410
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>73351231>73351233ID : >73351231>73351233
TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG[...]REF : TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>73351231>733512[...]INFO : AC=89; AF=1; AN=89; AT=>73351231>73351232>73351233,>73351231>73351233; LV=0; NS=45; e=32311729; s=305; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 305
splitAnnotation_mode : split
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ACMG : .
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
GenCC_disease : ciliopathy; retinitis pigmentosa 89
GenCC_moi : AD
GenCC_classification : Limited; Moderate; Strong
GenCC_pmid : 32386558
NCBI_gene_ID : 9371
intron2-intron2Location : intron2-intron2
CytoBand : q11.21
Location2 : CDS
Tx : NM_004798
Tx_version : 4
Tx_start : 32277650
Tx_end : 32335011
Exon_count : 9
Overlapped_tx_length : 305
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 242
Nearest_SS_type : 5'
Intersect_start : 32311423
Intersect_end : 32311728
603754; OMIM_ID : 603754;
OMIM_phenotype : Retinitis pigmentosa 89, 618955 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.438_duplicate7; HPRC:pbsv.DEL.2556; dbVar
B_loss_coord : 20:32311424-32311729; chr20:32311424-32311729; chr20:32311424-32311729
B_loss_AFmax : 0.9854
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>73351231>73351233ID : >73351231>73351233
TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG[...]REF : TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>73351231>733512[...]INFO : AC=89; AF=1; AN=89; AT=>73351231>73351232>73351233,>73351231>73351233; LV=0; NS=45; e=32311729; s=305; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12342
Gene_count : 1
fullAnnotation_mode : full
SCAPERGene_name : SCAPER;
LOEUF_bin : 1
GnomAD_pLI : 8.7953e-03
ExAC_pLI : 3.9283e-02
HI : .
TS : .
DDD_HI_percent : 23.01
ExAC_cnvZ : 2.07042166562307
ExAC_delZ : 1.45946679873772
ExAC_dupZ : 2.10917188850421
ExAC_synZ : -1.62188988366025
ExAC_misZ : 2.12517997683526
Closest_left : MIR3713
Closest_right : RCN2
.Location : .
CytoBand : q24.3
611611; OMIM_ID : 611611;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv15145986; dbVar:nssv18330320; dbVar:nssv15136327
po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:70025301-78705993; 15:74061396-77592055; 15:76006155-79982417
po_P_loss_percent : 0.02; 0.02; 0.14; 0.35; 0.31
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HP[...]B_loss_source : CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HPRC:pbsv.DEL.3831; dbVar; dgv460e199; esv2760392; gnomAD-SV_v3_DEL_chr15_6b875bca; gnomAD-SV_v3_DEL_chr15_c4d4814a; gnomAD-SV_v3_DEL_chr15_ea8215d9
B_loss_coord : chr15:32070448-77618522; chr15:56865558-77618525; 15:76586022-76610855; 15:76591305-76605151; 15:76592255-76604597; chr15:76592255-76604597; chr15:76592255-76604597; 15:76592256-76604597; chr15:76592256-76604597
B_loss_AFmax : 0.9955
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr15:56865558-77618525 gnomAD-SV_v3_DEL_chr15_c4d4814a; 15:76586953-76602899 DDD:45403; chr15:76592205-76603453 dbVar; 15:76592206-76603453 esv3636945; chr15:76592255-76604597 HPRC:pbsv.DEL.3831; 15:76592256-76604597 DDD:45406; 15:76592257-76604597 IMH; 15:76598901-76603434 esv2421572; 15:76598973-76601156 nsv514786; 15:76599388-76603421 dgv747e212
po_B_loss_someG_coord : chr15:32070448-77618522 gnomAD-SV_v3_DEL_chr15_6b875bca; 15:76586022-76610855 esv2760392; 15:76591305-76605151 dgv460e199; 15:76592206-76603453 1000g; 15:76592255-76604597 CMRI:0_pbsv.DEL.745_duplicate6; chr15:76592255-76604597 dbVar; chr15:76592256-76604597 gnomAD-SV_v3_DEL_chr15_ea8215d9; 15:76598901-76603434 DDD:45407; 15:76598901-76610855 esv2761977; 15:76599002-76602853 dgv4647n54
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 15:76592068-76592191; 15:76592312-76592521
Repeat_type_left : (AT)n; MER58A
Gap_left : .
GC_content_left : 0.290
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 15:76603012-76609170
Repeat_type_right : L1PA4
Gap_right : .
GC_content_right : 0.385
CHM13,HG00621,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00621,HG00733,HG00735,HG00741,HG01106,HG01109,HG01123,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02148,HG02622,HG02717,HG03453
<61664381<61664612ID : <61664381<61664612
TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTA[...]REF : TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTAAAGCAGAGTTAGGCCAACTACAGCCCACAGCCCACTGCTCAAATAAAATGTTATTTGAATATGGTCACACAAATTGATTTATGTATTCTCTGTGACTCCCTTATGCTACAAAGATAGACAGTTGAATAAGTGAGACTCACAAAGCCTAAAATATAGACCCTCACTTTAGGCCCACAAACCCTAAAATATTTACAACCTGGTCCTTTCTAAAAAAATGTTTGGTGGCTGGCAAGATGGCCAAAAGGAACAGCTCCATTCTGCAGCTCCCAGCGAGATCAACGCAGAAGGCAGGTGATTTCTGCATTTCCAACTGAGGTACCTGGCTCATCTCACTGGGACTGGTTAGACAGTGGGCGCAGCCCATGGAGGGTCAGCCAAAGCAGGGTGAGGTGTTGCCTCACCTGGGACGCGCAAGGGTTTGGGGAACTCCCTCCCCTAGCCAAGGGAAGCCTTGAGGGACTGTGCCTTGAGGAATGGTGCACTCCAGCCCAGATACTATGCTTTTCCTAAGGTCTTTGCAACCCGCAGACCAGGAGATTCCCTTGGGTGCCTATGCCACCAGGGCCCTGGGTTTCAAGCACAAAACTGGGTGGACTTTTGGGCAGACACCGAGCTAGCTGCAGGAGTATTTTTTTATACCCCAGTGGCACCTGGAACACCACCGAGACAGAACCATTCATTACCCTGGAAAGGGGGCTGAAGCCAGGGAGCGAACTCGTCTTGCTCAGCAGATCCCACCCCCACAGAGGCCAGCAAGCTAATATCCACTGGCTTGAAATTCTTGCTGCCAGCACAGCAGTCTGAAGTCGACCTGGGAAGCTTGAGCTTGGTGTGGGGAGGGGTGCCTGCCATTACTGAGGCTTGCGTAGGCAATTTTCCCCTCACAGGGTAAACAAAGCCACTGGGAAGTTCGAGCTGGGTGGAGGCATCATAGCTCCGCAAAGCTGCTATAGCCAGACTGCCTCTCTAGACTCCTCCTCTCTGGCCAGGGCATATCTGAAAGAAAGGCAGCAGCCCCAGTCAGGGGCTTATAGATAAAACTCCCATCTCCCTGGGGCAGAGCACCTGGGGGAAGGGGCGGCTGTGGGCACAGCTTCAGGAGACTTAAACATTCCAGCCTGCTGACTCTGAAGAGAGCAGCGGATCTCCTAGCACAGTGCTCGAGCTCAAATAAAGGACAGACTGCCACCTCAAGTGGGTCCCTGATCCCCATGCCTCCTGACTGGGAGACACCTCCCAGCAAGGGGTCAACAAACACCTCATACGGGAGAGCTCTGGCTGGGATCTGGTGGGTGCCCCTCTGAGACAAAGCCTCCAGAGGAAAAAACAGACAGCAATCTTTGCTGTTCTGCAGCATCCACTGGTGATACCGAGGCAAACAGGATCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGAAGTACAGGGGCCTGATTGTTAGAAGAAAAACTGACAGACAGAAAGGAATAGCATCAACAGCAACAAAAAGGACATCCACACAGAAACCCCATCCGAAGGTCACCAACATCAAAGACCAAAGGTAGATAAATCCAGGAAGATGAGGAAAAACCAGCACAAAAAGGCTGAAAATTCCAAACACCAGAAGGCCTCTTCTCCTCCAAAGGATCACAGCTCCTTGCCAGCAAGGGAATAAAACTGGATGGAGAATGAGTTTGACAAATTAACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCTGAGCTAAAGGAGCATGATATAACCGAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGAGGAATTGCTAACTAGAATAACCAGTTTAGAGAAGAACATAAATGATCTGATGGAGCTGAAAAACACAACACGAGAACTTCGTGAAGCATACACAAGGATCAATAGCTGAATCAACCAAGCGGAAGAAAGGATATCAGAGACTGAAGATCAACTTAATGATATAAAGCATGAAGACAAGATTAGAGAAAAAAGAATAGAAAGGAATGAACAAAGCCCCCAAGAAATACGGGAATATGTGAAAAGAACACAACTACGTTTGATTGGTGTGCCTGAAAGTGACTGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAACCTAGCAAGAAAGGCCAACACTGAAATTCAGGAATTACAGAGAATGCCCCAGAGATACTCCTCGAGAAGAGCAACCCCAAGACACATAATCATCAGATTCACCAAGGTTGAAATGAAGGAAAACATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTATCCACAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCTGCAGAAACTCTACAAGCCAGAAGAGAGTAGGGGCCAATACTCAACATTATTAAAGAAAAGAATTTTCAACCCAGAATTTCAAATCCAGCCAAATTAAGCTTCATAAGCAAAGGAGAAATAAAATCCTTTACAGACAAGTAAATGCTGAGCGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGAACTAAATATGGAAAGGAACAACCGGTACCAGCCACTGCAAAAACATATTAAACTGTAAAGACCATCAACACTACGAAGAAATTGAATCAACTAACCGGCAAGACAACCAGCTAGAATAATAATGACAGGATGAAATTCACACATAACAATATTAACCTTAAACGTAAATGGGCTAAATGCCCTAATTAGAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGAACCATTAGTGTGCTGTATTCAGGAGGCCCATCTCACAAGCAAAGACAAAAATAGGCACAAAATAAAGGGATGGAGGAAGATCCATGAAGCAAATGAAAAGCAAAAGAAAAGCAGGGGTTGCAGTCCTAGTCTCTGATAAAACAGACCTTTAGCCAACAAAGATCAAAAGAGACAAAGAAGGGCATTACATAATGGTAAAGGGATCAATGCAACAAGAAGAGTTAACTATCCTAAATATATACGGACCCAGATACATAAAGCAAGTTCTTAGAGACGTACAAAGAGACTTAGACCCCCATACAATAATAGTGGGAGACTTTAACACCCCACTGTCAATATTAGACAGATCAACGAGGCAGAAAATTAACAAGGATATTCAGGACTTGAACTTGGCTCTGGACTAAGTGGACCAAATAGACATCTACAGAACTCTCCACCCCAAATCAATAGAATATACATTCTTCTCAGTACCACATCGCATTTATTCTAAAATTGACCACATAATTGGAAATAAAACACTCCTCAGCAAATGCAAAAGAACAGAAATCATAACAAACAGTCTCTCAGACCACAGCACAACCAAATTAGAACTCAGGATTAAGAAACTCACTCAAAACTGCACAACTACATGGAAACTGAACAAACTGCTCCTGAATGACTACTGGTTACATAACAAAATTAAGGCAGAAATAATAAGTTCTTTGAAACCAATGGGAAGAAATACAAAATGTTCCAGAATCTCTGGGACACTGCCAAAGCAGAGTTTAGAGGGAAATTTATAGCACTAAATGCCCACAGGAGAAAGCAGGAAAGATCTAAAATCAACACCCTAACATCACAATTAGAAGAACTGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAAGAAATAACTAGGATCAGAGCAGAACTGAAGGAGATACAGACACGAAAAACCCTTCAAAAAATCAGTGAATCCAGGAGCTGGTTTTTTGAAAAGATTAACAACATAGATGGACCACTAGCCAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGGCACAATAAACAATGACAAAGAAAAGATCACCACTTATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAACTTCCTGGACACATACAGCCTCCCAAGATGAAACCAGGAAGAAGAATCCCTGAACAGACCAATAAGAAGTTCTGAAATTGAGGCAGTAATTAATAGCCTACCAACCAAAAAAAAAAAAAAAAGCCCAGGACCAGATGGATTCATAGCCAAATTCTACCAGAGGTACAAAGAGGAACTGGTACCATTCCTTTTAAAACTACTTCAAACAATAGAAAAAGACGGACTCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAACTCAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGTTGAACACCGATGTGAAAATCCTCAATAAAATACTGGCAAACCAAATCTGGCAGCACATTAAAAAGCTTATCTACCATGATCAAGTCGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATACACAAATCAATACTATCCATCACATAAACAGAACCAACGAGAAAAACCACAAGATTATCTCAATAGATGCAGAAAAGGCCTTCGATAAAATTCAAAACCCTTCATGCTAAAAACTCTCAATAAAGTAGGTATTGATGGAATGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAACATCATACTGAATGGGCAAAAGCTGGAAGCATTCCCTCTGAAAACCGGCAAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAACATAGTATTGGAAGTTCTGGCCAGGACAATCAGGCAAGAGAAAGAAATAAAGAGTATTCAAATAGGAAGAGAGGAAGTCAAATTGTCTCTGTTTATAGATGACATGACTGTATATTTAGAAAACCCCATCGTCTAAGCCCCAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATATAAAATCAGTGTGCAAAAATCACAAGCATTCCTATACACCAATAATGGACAGAGAGTCAAATCATGAGTGAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGCAAAACAACTTACACGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTACTCCACAAAATAAAAGAGGACACAAACAAATGAAAAACATTCCATGCTAATGGATAGGAAGAATCAAATCATGAAAATGGCCACACTGCCAAAAGTAATTTACAGATTCAGTGGTATCCCCATCAACCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTCATATGGAACCAAAAAAGAGCCTGTACAGCCAAGAGAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACAAGGCTACAGTAACCAAAACAGCATGGTACTAGTACCAAAACAGATATATAGACCAACAGAACAGAACAGAGCCCTCAGAAATAATGCCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATAGGGAAAGGATTCCCTATTTAATTAATGGTGTTGAGAAAACTGGCTAGCCATATGTAGAGAACTGAAATTGGACCCCTTCCTTACACCTTACACAAAAATTAACTCATGATGGATTAAAGACTTAAACATAAGGCCTAAAATCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAAGACTTCATGACTAAAATATCAAAAGCTATGGCAATAAAAGACAAAATTGACAAATGAGATGTAATTAAACTAAAGAGCTTCTGCATAGCAGAAGAAACTATCAACAGAGTGAACAGGGAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATCTGACAAAGGGCTAATATCCAGAATCTACAAGGAACTTAAAACAAATGTACAAGAAAAAAAAAACAACCCCATCAAAAAGTGGGTGATGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCGGCCAACAAACATGAAAAAAGGCTCATCATCAATGGTCATTAAAGAAATGCAAATCAAAACCACAATGAGATACCGTCTCACGCCAGTTAGAATGGTGACCATTAAAAAGTCAGGAAACAACGAATGCTAGAGGGGATGTGGAGAAATAGGAACACTTTTTACACTGTTGGTGACAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTTCTCAAAGATGTAGAACTAGAAATGCCATTTGACCCAGCAATCCCATCACTGGGTACATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTTTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCATATATACACCATGGAATACTATATAGCCATAAAAAAGGATGAGTTCATGTCCTTTACAGGGACATAGATGAAGCTGGAAACCGTCATTCTCTGCAAACTAACACAGGAACAGAAAACCAAACACCACATGTTCTCACTCATAAGTGGGAGGTGAACAATGAGAACACGTGGACACAGGGAAGGAAACATCACACACCGGGGCCTGTTGGGGTTAGGGGGATAGAGGAGGGATAGCATTAGGAGAACTACCTAATGTAGATGACGGGTTGATGGGTGCAGCATGGCACATGTATACCTACGTAACCTGTATGTTCTGCACATTTATCCCAGAAATTAAAGTATAATTAAAAAAAAAAAACTTTTGCCAGGACCCAGTTTCTAGCGGTAATAAAATGAATATGTATTAAGCATAAGGTTACCTGCTAGATTTTAAAAAAATAATAAAAATATACACAAGTATATAGATATCTACAATTCAATAATAAAAAAAGATAATTCACCAAAAATGGCAAAATATCTGAATAGACACTTGCCATAAGAAGAAATAAATGGCTTATACATACATGAGAGGACACTCAACACCATTAGGATTATCATGGAAACTCTAAATAAAATTTAAAAATGCCACTACATACCCATCTGAATGCCTAAAATTAAAAAGATTGACAACGTCAAATATTACCAAGGATATGAAACAGGAACTCTCACACATTGTTGGAAAGTAGGTAAAATGGTAATAATACTTTGAAAAAACGGTCTCGTGGTTTCTTATAAACCTAAACATACACATATCAAAGGACTTTGCACATTCATGCCTAGGTGTTCACCCAATAGAAATGAAAACTTATATCCAAAATTTATTTCCAAAAAGTAGAAAGAGCCCAAGTATCCATCATTAGTGGAATACACAAACAAATCAAGGCTACATTTACTCATAGGAGTACTGTCCAGCAATAAAAAGGAATGAATTGATAAACACAACATGGGTGAAACACAAAAACATGCTGAATGAAAGAAGGCTTATACAAAAGAGTACATACTATTTGATTTCATTTATAGCAAGCTCTACAACAGATGATTCTCATCTGTGGTGAAAGACAAGCTCTACAACAGGTGATTCTAATCAGTGATGAAAGAAAATCAGAATAGTGGTTGCCTCTTGGGTGGGAGTAAAGGGATTCACCAAGGACATATAATAACCTTCTGGGATGATGATACTGTGCAAATTTTGAGAGGTGTTTAAAATACTCAGTGTCTGCATTTGTCAAAATTTATCAAATGTCACCCTTAAGATCTGCGCATTTTGTTACATGTAAATTTTACCTCAAAACAAACACACAAACAAGGATAAATAATGAACTTGAGTTAATAACATGCATGTTGAAATACTGGAGGAGGAATATACTGATGTATGCAATTTACTTTCATGCATCAAAATCTGATGGATTGATAATGGATAAAGGGATGGAAAGATGAATAAATGTGATTAAGTATAGTAAATAATTACAGAATATATGTAGAGGATACATAAGTTTCCACAGTAAAATTCTTTCCAACTTTTCTGAATTTTTGAAAAATTTCATGCTAGAAAAACTACAGAAATATCTATTATGATATTCACACTTTGTACCAAACAGATAACATACTTTTCAAAAAATAAGGAATAGTTACAATTAGTAAACTGTATTAAAAAAGAAGATCCCAAATCCCAAAGGCAGAAATCACTGAACAACATATAAACTTAAAATTAAGCAAAACTAATAGAAAAATAGCATACTTGGAAAGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACATATATATATATATTTTTTTTTTTTTGAGATGAAGTCTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCTACCCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATTTTGGCCATACTGGTCTTGAACTCCTGACCTCAGACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCCACCCAGAAAGTATTTTTTTAAAATAATTCTAAATCACTCTTGGATTCAGAATAAAATACCAATTATGTGGAGATGAATAAAAACAAAAACACTCTCTATGAAAACACAGTAAGAAGGATAAAAGAAGAAATGAAGTCAAAGTGAAAACAAAACAGAAAACAAAAAGATCGAATCTATACATTTTAAAGCAATTTTTGGAAAGGACCAATAAAAAACAACCTCTGAAAAGTTTACTCAAAAAACAACAACAGAAGAAATTTCTAATACTAGCAACAAAAACCGAAGAAAAAATGTATTGAGAATTAAAGAAAATGTTAATGTGGATACACAGAATAGAAATTGAAAATTATGCTTTTTATTTAAAAAGTAATGGTAGTAGACAATATTCTAAAATAAGAATAATGGTGTTCTATCATGAATGGGTGATGGATGTTGTCAAACATTTTTTCTCCATCTAATGATACGTATGTGAGTTTTCTTATTTAGCCTGGTTATTTGATGGTTTTAAATTAGCAATTTATATGATTACATATTCTCTCCTTTCTTAGCACATCAATTACAGTCATATGCTGTATAAGGATGTTTCAGTCAATGACAGACTGCATATATGACAGTGGTCCCAAAAGATTATAATACTGCATTTTTACTGTATCTTTCCTATGTTTAGTTATGTTTAAATACACAAATATTTATCATTTTGTTACAATTGCCTGTAGTATTCATTACAGTAACATGGCATACATGTTTGTAGCCTAAGAGCTATAGGCCATATCATATAGCTTAAATGTATAGTAGGCTACACCATCTGGGTTTGTGTATGTATACTCTGATGTTCAAACAATGATGAAATTGCCTAAGGACACATCTCTCAGAACATATTTTCATTGTTAAGTGATGTATGACTGTATATTTCTTATTTTTAGTAGTTGCAAACTAAAAGTTTGCAGTATAGATTTATAATTATTCCAAGTCCAGTTTCAAATAATGCTATACTGCTTCACAGGTAGTGCTGTGAAATACCTTATAATAACAAAATATTCCTCATTTTTCCTTCCTATCCCTTCTATCACTGCTGTCATTCATTTCACATAGAAATAAATATACAGTCATCCCTTGGTATATGTGTGAGATTGGTTCCAGGAACCCCATGTAAAGCAAAATCTGCACATATTCAAGTCCTGCAGTCGGCCCCTTGGAATCTGCAAATACGAAAAGTCAGCCCTCCATATCCATGAGTTTTATATCCTGAGAATACTACATTTTCAATCCGTGTTTGGTTGAAAACATCTGCATATCATTGGGCTTGGGTAGTTCAAACCCATGCTGTCTAAGGGTCAACTGTACATACACACATAAGCATACATAATAGAAAACACTGTTGCTATTATTATTTTGAACAAACTGTTATCTGTTAAATTAACAATAAGAAAAATGTTATTTTATCTATGTTTATTCGTTCTTCAAAATTATTCCTTTTGTTATACAGATCTGAGTTTCTGATCTGTATCATTTAACTTCTCTCTGAAGAACTTCTTTTAACATTTCCTGCAAGGCAAGTCTAATAGCAACAATTCCCTCAATTTAGTTTATCTGAAAAAGTTTTTATTTCTTCATTTTTGAAGTATAACTTTGCACAGTACAGAATTCTAGGTTGGTGAGTTTTTTTCTAATCTTTGCTCCCATATAGGTAAGGTGTTTCTTTCCCCTTTGGTCTTTCAGGATTTTTCATTTCTCTTTGATTTACTGCAATTTGAATATCATACGCTCACAGGTAGAATTTTTTGTTTTTGTTTTTTGGGGGAAGCATTTATCTTGCTTGGTATTCTCCTATTCTCTAAACTTCCTGGATCTAGGATTTGGTGTCTGTCACTAATTTGGGGAAAATTCTCAGTCATGATTGTTTCAAATACTGCTTTTGTTCCTCCTCACTTTCTTTTCCCTTCTGGTATCCCAATTACATGTACGTTATACCTTTTTGCAGTTGTCCCACAGTTTCAGATATTCTGTTCACTTTCTCCCCAGTCTTCTTTAAATTGTTTTTCAATTTTGGAAGTTACTATTGTCATATCCTCAAGCTGAGATTATTTCCTCAGCTATCTGGTCTACTAATCAGCCTATCAATAGCACTGTTCACTTTTGTTACCATGTTTTCAAATTCTGGCATTTCTTTTTTTTTTTTTTAATTTGAGCTCATTTATTGGTTCAGAATTTACTAAGACAGCAAGAAAACTTTTTTTTTTTTTTTGGTTTGGATCCTCAATAGTTTTTATTTTATTTATTTATTTACTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGATATCCCTCCCCCTTCCTCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGCGAGAACATGCGGTGTTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACGTTTTCTTAATCCAGTCTATGGTTCTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCTATAAACATATGTGTGCATGTGTCTTTACAGCAGCATGATTTATAATCCTTTGGGTATGTACCCAGTGATGGGATGGCTGGGTCAAATGGTTTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTGCAGTCCCACTCACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGACAGTGATGATGAGCATTTTTTCATGTGTCTGTTGGCTGCATAAATGTCTTCTTTTGAGAAGTATCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTTTTCTTGTAAATTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCAGTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACCTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTGCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCTATTGCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATAGCTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTCGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAAGCGGGATGCCTCCAGCTTCGTTCTTTTGCCTTAGGATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCTGATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT
TALT : T
60QUAL : 60
.FILTER : .
AC=21; AF=0.235955; AN=89; AT=>61664612>[...]INFO : AC=21; AF=0.235955; AN=89; AT=>61664612>61664611>61664610>61664608>61664607>61664605>61664604>61664602>61664601>61664599>61664598>61664596>61664595>61664593>61664592>61664590>61664589>61664587>61664586>61664584>61664583>61664581>61664580>61664578>61664577>61664575>61664574>61664572>61664570>61664569>61664566>61664565>61664563>61664562>61664560>61664559>61664557>61664556>61664554>61664553>61664551>61664550>61664548>61664547>61664545>61664544>61664542>61664540>61664539>61664537>61664536>61664534>61664533>61664531>61664530>61664528>61664527>61664526>61664525>61664523>61664522>61664520>61664519>61664517>61664516>61664514>61664513>61664511>61664510>61664508>61664507>61664505>61664504>61664503>61664502>61664500>61664499>61664497>61664496>61664495>61664494>61664492>61664490>61664487>61664485>61664484>61664482>61664481>61664479>61664478>61664476>61664475>61664473>61664472>61664470>61664469>61664467>61664465>61664464>61664463>61664462>61664460>61664459>61664457>61664456>61664454>61664453>61664451>61664450>61664448>61664447>61664445>61664444>61664443>61664442>61664440>61664439>61664437>61664436>61664434>61664433>61664429>61664428>61664426>61664425>61664423>61664422>61664420>61664419>61664417>61664416>61664414>61664413>61664411>61664410>61664408>61664407>61664405>61664404>61664402>61664401>61664399>61664398>61664396>61664395>61664393>61664392>61664390>61664389>61664387>61664386>61664385>61664384>61664382>61664381,>61664612>61664381; LV=0; NS=45; e=76604598; s=12347; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
1|0HG00621 : 1|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|1HG00735 : 0|1
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|1HG01106 : 0|1
1|0HG01109 : 1|0
0|1HG01123 : 0|1
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|1HG01361 : 0|1
1|0HG01891 : 1|0
0|1HG01928 : 0|1
1|1HG01952 : 1|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
0|0HG02630 : 0|0
0|1HG02717 : 0|1
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 12342
splitAnnotation_mode : split
SCAPERGene_name : SCAPER;
LOEUF_bin : 1
GnomAD_pLI : 8.7953e-03
ExAC_pLI : 3.9283e-02
HI : .
TS : .
DDD_HI_percent : 23.01
ACMG : .
ExAC_cnvZ : 2.07042166562307
ExAC_delZ : 1.45946679873772
ExAC_dupZ : 2.10917188850421
ExAC_synZ : -1.62188988366025
ExAC_misZ : 2.12517997683526
GenCC_disease : Bardet-Biedl syndrome; intellectual developmental disorder and retinitis pigmentosa; IDDRP; retinitis pigmentosa
GenCC_moi : AD; AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 28794130; 28794130[PMID]; 30723319[PMID]
NCBI_gene_ID : 49855
intron7-intron7Location : intron7-intron7
CytoBand : q24.3
Location2 : CDS
Tx : XM_047432633
Tx_version : 1
Tx_start : 76347903
Tx_end : 76732242
Exon_count : 17
Overlapped_tx_length : 12342
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 17166
Nearest_SS_type : 5'
Intersect_start : 76592255
Intersect_end : 76604597
611611; OMIM_ID : 611611;
OMIM_phenotype : Intellectual developmental disorder and retinitis pigmentosa, 618195 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HP[...]B_loss_source : CMRI:0_pbsv.DEL.745_duplicate6; DDD:45406; HPRC:pbsv.DEL.3831; dbVar; dgv460e199; esv2760392; gnomAD-SV_v3_DEL_chr15_6b875bca; gnomAD-SV_v3_DEL_chr15_c4d4814a; gnomAD-SV_v3_DEL_chr15_ea8215d9
B_loss_coord : chr15:32070448-77618522; chr15:56865558-77618525; 15:76586022-76610855; 15:76591305-76605151; 15:76592255-76604597; chr15:76592255-76604597; chr15:76592255-76604597; 15:76592256-76604597; chr15:76592256-76604597
B_loss_AFmax : 0.9955
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00621,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00621,HG00733,HG00735,HG00741,HG01106,HG01109,HG01123,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02148,HG02622,HG02717,HG03453
<61664381<61664612ID : <61664381<61664612
TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTA[...]REF : TTAGAAATAAAGAGGCATTTCAATTATGACTTTATGTAATTGTTAAAGCAGAGTTAGGCCAACTACAGCCCACAGCCCACTGCTCAAATAAAATGTTATTTGAATATGGTCACACAAATTGATTTATGTATTCTCTGTGACTCCCTTATGCTACAAAGATAGACAGTTGAATAAGTGAGACTCACAAAGCCTAAAATATAGACCCTCACTTTAGGCCCACAAACCCTAAAATATTTACAACCTGGTCCTTTCTAAAAAAATGTTTGGTGGCTGGCAAGATGGCCAAAAGGAACAGCTCCATTCTGCAGCTCCCAGCGAGATCAACGCAGAAGGCAGGTGATTTCTGCATTTCCAACTGAGGTACCTGGCTCATCTCACTGGGACTGGTTAGACAGTGGGCGCAGCCCATGGAGGGTCAGCCAAAGCAGGGTGAGGTGTTGCCTCACCTGGGACGCGCAAGGGTTTGGGGAACTCCCTCCCCTAGCCAAGGGAAGCCTTGAGGGACTGTGCCTTGAGGAATGGTGCACTCCAGCCCAGATACTATGCTTTTCCTAAGGTCTTTGCAACCCGCAGACCAGGAGATTCCCTTGGGTGCCTATGCCACCAGGGCCCTGGGTTTCAAGCACAAAACTGGGTGGACTTTTGGGCAGACACCGAGCTAGCTGCAGGAGTATTTTTTTATACCCCAGTGGCACCTGGAACACCACCGAGACAGAACCATTCATTACCCTGGAAAGGGGGCTGAAGCCAGGGAGCGAACTCGTCTTGCTCAGCAGATCCCACCCCCACAGAGGCCAGCAAGCTAATATCCACTGGCTTGAAATTCTTGCTGCCAGCACAGCAGTCTGAAGTCGACCTGGGAAGCTTGAGCTTGGTGTGGGGAGGGGTGCCTGCCATTACTGAGGCTTGCGTAGGCAATTTTCCCCTCACAGGGTAAACAAAGCCACTGGGAAGTTCGAGCTGGGTGGAGGCATCATAGCTCCGCAAAGCTGCTATAGCCAGACTGCCTCTCTAGACTCCTCCTCTCTGGCCAGGGCATATCTGAAAGAAAGGCAGCAGCCCCAGTCAGGGGCTTATAGATAAAACTCCCATCTCCCTGGGGCAGAGCACCTGGGGGAAGGGGCGGCTGTGGGCACAGCTTCAGGAGACTTAAACATTCCAGCCTGCTGACTCTGAAGAGAGCAGCGGATCTCCTAGCACAGTGCTCGAGCTCAAATAAAGGACAGACTGCCACCTCAAGTGGGTCCCTGATCCCCATGCCTCCTGACTGGGAGACACCTCCCAGCAAGGGGTCAACAAACACCTCATACGGGAGAGCTCTGGCTGGGATCTGGTGGGTGCCCCTCTGAGACAAAGCCTCCAGAGGAAAAAACAGACAGCAATCTTTGCTGTTCTGCAGCATCCACTGGTGATACCGAGGCAAACAGGATCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGAAGTACAGGGGCCTGATTGTTAGAAGAAAAACTGACAGACAGAAAGGAATAGCATCAACAGCAACAAAAAGGACATCCACACAGAAACCCCATCCGAAGGTCACCAACATCAAAGACCAAAGGTAGATAAATCCAGGAAGATGAGGAAAAACCAGCACAAAAAGGCTGAAAATTCCAAACACCAGAAGGCCTCTTCTCCTCCAAAGGATCACAGCTCCTTGCCAGCAAGGGAATAAAACTGGATGGAGAATGAGTTTGACAAATTAACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCTGAGCTAAAGGAGCATGATATAACCGAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGAGGAATTGCTAACTAGAATAACCAGTTTAGAGAAGAACATAAATGATCTGATGGAGCTGAAAAACACAACACGAGAACTTCGTGAAGCATACACAAGGATCAATAGCTGAATCAACCAAGCGGAAGAAAGGATATCAGAGACTGAAGATCAACTTAATGATATAAAGCATGAAGACAAGATTAGAGAAAAAAGAATAGAAAGGAATGAACAAAGCCCCCAAGAAATACGGGAATATGTGAAAAGAACACAACTACGTTTGATTGGTGTGCCTGAAAGTGACTGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAACCTAGCAAGAAAGGCCAACACTGAAATTCAGGAATTACAGAGAATGCCCCAGAGATACTCCTCGAGAAGAGCAACCCCAAGACACATAATCATCAGATTCACCAAGGTTGAAATGAAGGAAAACATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTATCCACAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCTGCAGAAACTCTACAAGCCAGAAGAGAGTAGGGGCCAATACTCAACATTATTAAAGAAAAGAATTTTCAACCCAGAATTTCAAATCCAGCCAAATTAAGCTTCATAAGCAAAGGAGAAATAAAATCCTTTACAGACAAGTAAATGCTGAGCGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGAACTAAATATGGAAAGGAACAACCGGTACCAGCCACTGCAAAAACATATTAAACTGTAAAGACCATCAACACTACGAAGAAATTGAATCAACTAACCGGCAAGACAACCAGCTAGAATAATAATGACAGGATGAAATTCACACATAACAATATTAACCTTAAACGTAAATGGGCTAAATGCCCTAATTAGAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGAACCATTAGTGTGCTGTATTCAGGAGGCCCATCTCACAAGCAAAGACAAAAATAGGCACAAAATAAAGGGATGGAGGAAGATCCATGAAGCAAATGAAAAGCAAAAGAAAAGCAGGGGTTGCAGTCCTAGTCTCTGATAAAACAGACCTTTAGCCAACAAAGATCAAAAGAGACAAAGAAGGGCATTACATAATGGTAAAGGGATCAATGCAACAAGAAGAGTTAACTATCCTAAATATATACGGACCCAGATACATAAAGCAAGTTCTTAGAGACGTACAAAGAGACTTAGACCCCCATACAATAATAGTGGGAGACTTTAACACCCCACTGTCAATATTAGACAGATCAACGAGGCAGAAAATTAACAAGGATATTCAGGACTTGAACTTGGCTCTGGACTAAGTGGACCAAATAGACATCTACAGAACTCTCCACCCCAAATCAATAGAATATACATTCTTCTCAGTACCACATCGCATTTATTCTAAAATTGACCACATAATTGGAAATAAAACACTCCTCAGCAAATGCAAAAGAACAGAAATCATAACAAACAGTCTCTCAGACCACAGCACAACCAAATTAGAACTCAGGATTAAGAAACTCACTCAAAACTGCACAACTACATGGAAACTGAACAAACTGCTCCTGAATGACTACTGGTTACATAACAAAATTAAGGCAGAAATAATAAGTTCTTTGAAACCAATGGGAAGAAATACAAAATGTTCCAGAATCTCTGGGACACTGCCAAAGCAGAGTTTAGAGGGAAATTTATAGCACTAAATGCCCACAGGAGAAAGCAGGAAAGATCTAAAATCAACACCCTAACATCACAATTAGAAGAACTGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAAGAAATAACTAGGATCAGAGCAGAACTGAAGGAGATACAGACACGAAAAACCCTTCAAAAAATCAGTGAATCCAGGAGCTGGTTTTTTGAAAAGATTAACAACATAGATGGACCACTAGCCAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGGCACAATAAACAATGACAAAGAAAAGATCACCACTTATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAACTTCCTGGACACATACAGCCTCCCAAGATGAAACCAGGAAGAAGAATCCCTGAACAGACCAATAAGAAGTTCTGAAATTGAGGCAGTAATTAATAGCCTACCAACCAAAAAAAAAAAAAAAAGCCCAGGACCAGATGGATTCATAGCCAAATTCTACCAGAGGTACAAAGAGGAACTGGTACCATTCCTTTTAAAACTACTTCAAACAATAGAAAAAGACGGACTCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAACTCAGCAGAGACACAACAAAAAAAGAAAATTTCAGGCCAATATCCCTGTTGAACACCGATGTGAAAATCCTCAATAAAATACTGGCAAACCAAATCTGGCAGCACATTAAAAAGCTTATCTACCATGATCAAGTCGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATACACAAATCAATACTATCCATCACATAAACAGAACCAACGAGAAAAACCACAAGATTATCTCAATAGATGCAGAAAAGGCCTTCGATAAAATTCAAAACCCTTCATGCTAAAAACTCTCAATAAAGTAGGTATTGATGGAATGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAACATCATACTGAATGGGCAAAAGCTGGAAGCATTCCCTCTGAAAACCGGCAAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAACATAGTATTGGAAGTTCTGGCCAGGACAATCAGGCAAGAGAAAGAAATAAAGAGTATTCAAATAGGAAGAGAGGAAGTCAAATTGTCTCTGTTTATAGATGACATGACTGTATATTTAGAAAACCCCATCGTCTAAGCCCCAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATATAAAATCAGTGTGCAAAAATCACAAGCATTCCTATACACCAATAATGGACAGAGAGTCAAATCATGAGTGAACTCCCATTCACAATTGCTACAAAGAGAATAAAATACCTAGCAAAACAACTTACACGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTACTCCACAAAATAAAAGAGGACACAAACAAATGAAAAACATTCCATGCTAATGGATAGGAAGAATCAAATCATGAAAATGGCCACACTGCCAAAAGTAATTTACAGATTCAGTGGTATCCCCATCAACCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTACTTTAAATTTCATATGGAACCAAAAAAGAGCCTGTACAGCCAAGAGAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACAAGGCTACAGTAACCAAAACAGCATGGTACTAGTACCAAAACAGATATATAGACCAACAGAACAGAACAGAGCCCTCAGAAATAATGCCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATAGGGAAAGGATTCCCTATTTAATTAATGGTGTTGAGAAAACTGGCTAGCCATATGTAGAGAACTGAAATTGGACCCCTTCCTTACACCTTACACAAAAATTAACTCATGATGGATTAAAGACTTAAACATAAGGCCTAAAATCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAAGACTTCATGACTAAAATATCAAAAGCTATGGCAATAAAAGACAAAATTGACAAATGAGATGTAATTAAACTAAAGAGCTTCTGCATAGCAGAAGAAACTATCAACAGAGTGAACAGGGAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATCTGACAAAGGGCTAATATCCAGAATCTACAAGGAACTTAAAACAAATGTACAAGAAAAAAAAAACAACCCCATCAAAAAGTGGGTGATGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCGGCCAACAAACATGAAAAAAGGCTCATCATCAATGGTCATTAAAGAAATGCAAATCAAAACCACAATGAGATACCGTCTCACGCCAGTTAGAATGGTGACCATTAAAAAGTCAGGAAACAACGAATGCTAGAGGGGATGTGGAGAAATAGGAACACTTTTTACACTGTTGGTGACAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTTCTCAAAGATGTAGAACTAGAAATGCCATTTGACCCAGCAATCCCATCACTGGGTACATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACTTTTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCATATATACACCATGGAATACTATATAGCCATAAAAAAGGATGAGTTCATGTCCTTTACAGGGACATAGATGAAGCTGGAAACCGTCATTCTCTGCAAACTAACACAGGAACAGAAAACCAAACACCACATGTTCTCACTCATAAGTGGGAGGTGAACAATGAGAACACGTGGACACAGGGAAGGAAACATCACACACCGGGGCCTGTTGGGGTTAGGGGGATAGAGGAGGGATAGCATTAGGAGAACTACCTAATGTAGATGACGGGTTGATGGGTGCAGCATGGCACATGTATACCTACGTAACCTGTATGTTCTGCACATTTATCCCAGAAATTAAAGTATAATTAAAAAAAAAAAACTTTTGCCAGGACCCAGTTTCTAGCGGTAATAAAATGAATATGTATTAAGCATAAGGTTACCTGCTAGATTTTAAAAAAATAATAAAAATATACACAAGTATATAGATATCTACAATTCAATAATAAAAAAAGATAATTCACCAAAAATGGCAAAATATCTGAATAGACACTTGCCATAAGAAGAAATAAATGGCTTATACATACATGAGAGGACACTCAACACCATTAGGATTATCATGGAAACTCTAAATAAAATTTAAAAATGCCACTACATACCCATCTGAATGCCTAAAATTAAAAAGATTGACAACGTCAAATATTACCAAGGATATGAAACAGGAACTCTCACACATTGTTGGAAAGTAGGTAAAATGGTAATAATACTTTGAAAAAACGGTCTCGTGGTTTCTTATAAACCTAAACATACACATATCAAAGGACTTTGCACATTCATGCCTAGGTGTTCACCCAATAGAAATGAAAACTTATATCCAAAATTTATTTCCAAAAAGTAGAAAGAGCCCAAGTATCCATCATTAGTGGAATACACAAACAAATCAAGGCTACATTTACTCATAGGAGTACTGTCCAGCAATAAAAAGGAATGAATTGATAAACACAACATGGGTGAAACACAAAAACATGCTGAATGAAAGAAGGCTTATACAAAAGAGTACATACTATTTGATTTCATTTATAGCAAGCTCTACAACAGATGATTCTCATCTGTGGTGAAAGACAAGCTCTACAACAGGTGATTCTAATCAGTGATGAAAGAAAATCAGAATAGTGGTTGCCTCTTGGGTGGGAGTAAAGGGATTCACCAAGGACATATAATAACCTTCTGGGATGATGATACTGTGCAAATTTTGAGAGGTGTTTAAAATACTCAGTGTCTGCATTTGTCAAAATTTATCAAATGTCACCCTTAAGATCTGCGCATTTTGTTACATGTAAATTTTACCTCAAAACAAACACACAAACAAGGATAAATAATGAACTTGAGTTAATAACATGCATGTTGAAATACTGGAGGAGGAATATACTGATGTATGCAATTTACTTTCATGCATCAAAATCTGATGGATTGATAATGGATAAAGGGATGGAAAGATGAATAAATGTGATTAAGTATAGTAAATAATTACAGAATATATGTAGAGGATACATAAGTTTCCACAGTAAAATTCTTTCCAACTTTTCTGAATTTTTGAAAAATTTCATGCTAGAAAAACTACAGAAATATCTATTATGATATTCACACTTTGTACCAAACAGATAACATACTTTTCAAAAAATAAGGAATAGTTACAATTAGTAAACTGTATTAAAAAAGAAGATCCCAAATCCCAAAGGCAGAAATCACTGAACAACATATAAACTTAAAATTAAGCAAAACTAATAGAAAAATAGCATACTTGGAAAGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACATATATATATATATTTTTTTTTTTTTGAGATGAAGTCTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCTACCCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCCCCATTTTGGCCATACTGGTCTTGAACTCCTGACCTCAGACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCCACCCAGAAAGTATTTTTTTAAAATAATTCTAAATCACTCTTGGATTCAGAATAAAATACCAATTATGTGGAGATGAATAAAAACAAAAACACTCTCTATGAAAACACAGTAAGAAGGATAAAAGAAGAAATGAAGTCAAAGTGAAAACAAAACAGAAAACAAAAAGATCGAATCTATACATTTTAAAGCAATTTTTGGAAAGGACCAATAAAAAACAACCTCTGAAAAGTTTACTCAAAAAACAACAACAGAAGAAATTTCTAATACTAGCAACAAAAACCGAAGAAAAAATGTATTGAGAATTAAAGAAAATGTTAATGTGGATACACAGAATAGAAATTGAAAATTATGCTTTTTATTTAAAAAGTAATGGTAGTAGACAATATTCTAAAATAAGAATAATGGTGTTCTATCATGAATGGGTGATGGATGTTGTCAAACATTTTTTCTCCATCTAATGATACGTATGTGAGTTTTCTTATTTAGCCTGGTTATTTGATGGTTTTAAATTAGCAATTTATATGATTACATATTCTCTCCTTTCTTAGCACATCAATTACAGTCATATGCTGTATAAGGATGTTTCAGTCAATGACAGACTGCATATATGACAGTGGTCCCAAAAGATTATAATACTGCATTTTTACTGTATCTTTCCTATGTTTAGTTATGTTTAAATACACAAATATTTATCATTTTGTTACAATTGCCTGTAGTATTCATTACAGTAACATGGCATACATGTTTGTAGCCTAAGAGCTATAGGCCATATCATATAGCTTAAATGTATAGTAGGCTACACCATCTGGGTTTGTGTATGTATACTCTGATGTTCAAACAATGATGAAATTGCCTAAGGACACATCTCTCAGAACATATTTTCATTGTTAAGTGATGTATGACTGTATATTTCTTATTTTTAGTAGTTGCAAACTAAAAGTTTGCAGTATAGATTTATAATTATTCCAAGTCCAGTTTCAAATAATGCTATACTGCTTCACAGGTAGTGCTGTGAAATACCTTATAATAACAAAATATTCCTCATTTTTCCTTCCTATCCCTTCTATCACTGCTGTCATTCATTTCACATAGAAATAAATATACAGTCATCCCTTGGTATATGTGTGAGATTGGTTCCAGGAACCCCATGTAAAGCAAAATCTGCACATATTCAAGTCCTGCAGTCGGCCCCTTGGAATCTGCAAATACGAAAAGTCAGCCCTCCATATCCATGAGTTTTATATCCTGAGAATACTACATTTTCAATCCGTGTTTGGTTGAAAACATCTGCATATCATTGGGCTTGGGTAGTTCAAACCCATGCTGTCTAAGGGTCAACTGTACATACACACATAAGCATACATAATAGAAAACACTGTTGCTATTATTATTTTGAACAAACTGTTATCTGTTAAATTAACAATAAGAAAAATGTTATTTTATCTATGTTTATTCGTTCTTCAAAATTATTCCTTTTGTTATACAGATCTGAGTTTCTGATCTGTATCATTTAACTTCTCTCTGAAGAACTTCTTTTAACATTTCCTGCAAGGCAAGTCTAATAGCAACAATTCCCTCAATTTAGTTTATCTGAAAAAGTTTTTATTTCTTCATTTTTGAAGTATAACTTTGCACAGTACAGAATTCTAGGTTGGTGAGTTTTTTTCTAATCTTTGCTCCCATATAGGTAAGGTGTTTCTTTCCCCTTTGGTCTTTCAGGATTTTTCATTTCTCTTTGATTTACTGCAATTTGAATATCATACGCTCACAGGTAGAATTTTTTGTTTTTGTTTTTTGGGGGAAGCATTTATCTTGCTTGGTATTCTCCTATTCTCTAAACTTCCTGGATCTAGGATTTGGTGTCTGTCACTAATTTGGGGAAAATTCTCAGTCATGATTGTTTCAAATACTGCTTTTGTTCCTCCTCACTTTCTTTTCCCTTCTGGTATCCCAATTACATGTACGTTATACCTTTTTGCAGTTGTCCCACAGTTTCAGATATTCTGTTCACTTTCTCCCCAGTCTTCTTTAAATTGTTTTTCAATTTTGGAAGTTACTATTGTCATATCCTCAAGCTGAGATTATTTCCTCAGCTATCTGGTCTACTAATCAGCCTATCAATAGCACTGTTCACTTTTGTTACCATGTTTTCAAATTCTGGCATTTCTTTTTTTTTTTTTTAATTTGAGCTCATTTATTGGTTCAGAATTTACTAAGACAGCAAGAAAACTTTTTTTTTTTTTTTGGTTTGGATCCTCAATAGTTTTTATTTTATTTATTTATTTACTTAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCACGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGATATCCCTCCCCCTTCCTCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGCGAGAACATGCGGTGTTTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACGTTTTCTTAATCCAGTCTATGGTTCTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCTATAAACATATGTGTGCATGTGTCTTTACAGCAGCATGATTTATAATCCTTTGGGTATGTACCCAGTGATGGGATGGCTGGGTCAAATGGTTTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTGCAGTCCCACTCACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGACAGTGATGATGAGCATTTTTTCATGTGTCTGTTGGCTGCATAAATGTCTTCTTTTGAGAAGTATCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTTTTCTTGTAAATTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATCTTCTCCCATTCTGTAGGTTGCCTGTTCAGTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACCTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTGCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCTATTGCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATAGCTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTCGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAAGCGGGATGCCTCCAGCTTCGTTCTTTTGCCTTAGGATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCTGATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAAT
TALT : T
60QUAL : 60
.FILTER : .
AC=21; AF=0.235955; AN=89; AT=>61664612>[...]INFO : AC=21; AF=0.235955; AN=89; AT=>61664612>61664611>61664610>61664608>61664607>61664605>61664604>61664602>61664601>61664599>61664598>61664596>61664595>61664593>61664592>61664590>61664589>61664587>61664586>61664584>61664583>61664581>61664580>61664578>61664577>61664575>61664574>61664572>61664570>61664569>61664566>61664565>61664563>61664562>61664560>61664559>61664557>61664556>61664554>61664553>61664551>61664550>61664548>61664547>61664545>61664544>61664542>61664540>61664539>61664537>61664536>61664534>61664533>61664531>61664530>61664528>61664527>61664526>61664525>61664523>61664522>61664520>61664519>61664517>61664516>61664514>61664513>61664511>61664510>61664508>61664507>61664505>61664504>61664503>61664502>61664500>61664499>61664497>61664496>61664495>61664494>61664492>61664490>61664487>61664485>61664484>61664482>61664481>61664479>61664478>61664476>61664475>61664473>61664472>61664470>61664469>61664467>61664465>61664464>61664463>61664462>61664460>61664459>61664457>61664456>61664454>61664453>61664451>61664450>61664448>61664447>61664445>61664444>61664443>61664442>61664440>61664439>61664437>61664436>61664434>61664433>61664429>61664428>61664426>61664425>61664423>61664422>61664420>61664419>61664417>61664416>61664414>61664413>61664411>61664410>61664408>61664407>61664405>61664404>61664402>61664401>61664399>61664398>61664396>61664395>61664393>61664392>61664390>61664389>61664387>61664386>61664385>61664384>61664382>61664381,>61664612>61664381; LV=0; NS=45; e=76604598; s=12347; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
1|0HG00621 : 1|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|1HG00735 : 0|1
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|1HG01106 : 0|1
1|0HG01109 : 1|0
0|1HG01123 : 0|1
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|1HG01361 : 0|1
1|0HG01891 : 1|0
0|1HG01928 : 0|1
1|1HG01952 : 1|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
0|0HG02630 : 0|0
0|1HG02717 : 0|1
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 176
Gene_count : 1
fullAnnotation_mode : full
GNSGene_name : GNS;
LOEUF_bin : 3
GnomAD_pLI : 5.6441e-04
ExAC_pLI : 8.2905e-02
HI : .
TS : .
DDD_HI_percent : 30.08
ExAC_cnvZ : -0.337735357311546
ExAC_delZ : 0.409790176114064
ExAC_dupZ : -0.679490615390371
ExAC_synZ : -0.33534265775009
ExAC_misZ : 1.51643546514957
Closest_left : MIR548Z
Closest_right : TBC1D30
.Location : .
CytoBand : q14.3
607664; OMIM_ID : 607664;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Mucopolysaccharidosis type IIID, 252940 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136921; dbVar:nssv18786358; dbVar:nssv18790880; morbid:GNS; dbVar:nssv16212003
po_P_loss_coord : 12:60907152-66568077; 12:64215679-69958323; 12:64455872-65463322; 12:64713449-64759406; 12:64739372-64747928
po_P_loss_percent : 0.00; 0.00; 0.02; 0.38; 2.06
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL.4586; dbVar
B_loss_coord : 12:64741047-64741223; chr12:64741047-64741223; chr12:64741047-64741223
B_loss_AFmax : 0.7961
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr12:64741047-64741223 HPRC:pbsv.DEL.4586; chr12:64741063-64741223 gnomAD-SV_v3_DEL_chr12_ad2a3668
po_B_loss_someG_coord : 12:64741047-64741223 CMRI:0_pbsv.DEL.874_duplicate8; chr12:64741047-64741223 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:64741064-64741229
Repeat_type_left : AluYa5
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 12:64741064-64741229; 12:64741267-64741321
Repeat_type_right : AluYa5; AluSx
Gap_right : .
GC_content_right : 0.515
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>53760240>53760242ID : >53760240>53760242
TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCC[...]REF : TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=74; AF=0.831461; AN=89; AT=>53760240>[...]INFO : AC=74; AF=0.831461; AN=89; AT=>53760240>53760241>53760242,>53760240>53760242; LV=0; NS=45; e=64741223; s=176; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|0HG00621 : 1|0
1|1HG00673 : 1|1
1|0HG00733 : 1|0
1|0HG00735 : 1|0
1|1HG00741 : 1|1
0|1HG01071 : 0|1
0|1HG01106 : 0|1
1|1HG01109 : 1|1
1|0HG01123 : 1|0
1|0HG01175 : 1|0
1|0HG01243 : 1|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
1|0HG01361 : 1|0
0|1HG01891 : 0|1
1|1HG01928 : 1|1
1|0HG01952 : 1|0
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
0|1HG03486 : 0|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 176
splitAnnotation_mode : split
GNSGene_name : GNS;
LOEUF_bin : 3
GnomAD_pLI : 5.6441e-04
ExAC_pLI : 8.2905e-02
HI : 30
TS : .
DDD_HI_percent : 30.08
ACMG : .
ExAC_cnvZ : -0.337735357311546
ExAC_delZ : 0.409790176114064
ExAC_dupZ : -0.679490615390371
ExAC_synZ : -0.33534265775009
ExAC_misZ : 1.51643546514957
GenCC_disease : mucopolysaccharidosis type 3D
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 12573255[PMID]_17998446[PMID]; 12624138; 17998446; 19650410; 20232353; 251476; 25851924; 3100754; 6450420
NCBI_gene_ID : 2799
intron6-intron6Location : intron6-intron6
CytoBand : q14.3
Location2 : CDS
Tx : NM_002076
Tx_version : 4
Tx_start : 64713448
Tx_end : 64759406
Exon_count : 14
Overlapped_tx_length : 176
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 358
Nearest_SS_type : 3'
Intersect_start : 64741046
Intersect_end : 64741222
607664; OMIM_ID : 607664;
OMIM_phenotype : Mucopolysaccharidosis type IIID, 252940 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.874_duplicate8; HPRC:pbsv.DEL.4586; dbVar
B_loss_coord : 12:64741047-64741223; chr12:64741047-64741223; chr12:64741047-64741223
B_loss_AFmax : 0.7961
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>53760240>53760242ID : >53760240>53760242
TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCC[...]REF : TAGAAAATGGGCAAATAGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=74; AF=0.831461; AN=89; AT=>53760240>[...]INFO : AC=74; AF=0.831461; AN=89; AT=>53760240>53760241>53760242,>53760240>53760242; LV=0; NS=45; e=64741223; s=176; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|0HG00621 : 1|0
1|1HG00673 : 1|1
1|0HG00733 : 1|0
1|0HG00735 : 1|0
1|1HG00741 : 1|1
0|1HG01071 : 0|1
0|1HG01106 : 0|1
1|1HG01109 : 1|1
1|0HG01123 : 1|0
1|0HG01175 : 1|0
1|0HG01243 : 1|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
1|0HG01361 : 1|0
0|1HG01891 : 0|1
1|1HG01928 : 1|1
1|0HG01952 : 1|0
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
0|1HG03486 : 0|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2C-2 (PCDH15,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 125
Gene_count : 1
fullAnnotation_mode : full
PCDH15Gene_name : PCDH15;
LOEUF_bin : 4
GnomAD_pLI : 8.0283e-25
ExAC_pLI : 7.2312e-11
HI : .
TS : .
DDD_HI_percent : 23.23
ExAC_cnvZ : -0.270961846367277
ExAC_delZ : -1.70907171020359
ExAC_dupZ : 0.649013663491648
ExAC_synZ : -0.472349288805724
ExAC_misZ : -2.87993087221192
Closest_left : MIR548F1
Closest_right : LOC124902580
.Location : .
CytoBand : q21.1
605514; OMIM_ID : 605514;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15223154; dbVar:nssv16208274; dbVar:nssv16208896; dbVar:nssv15130007; dbVar:nssv16208897; dbVar:nssv15120643
po_P_loss_coord : 10:12787208-133613639; 10:45931518-58301883; 10:45931518-67496325; 10:53830191-62230890; 10:54069819-54963276; 10:54271451-63900638; 10:54287240-57268543
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomA[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f
B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:54600438-55000631; chr10:54898740-55253759
B_loss_AFmax : 0.1396
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:54898740-55253759 dbVar; chr10:54938288-54938413 HPRC:pbsv.DEL.5245
po_B_loss_someG_coord : chr10:37996824-76847693 gnomAD-SV_v3_DEL_chr10_a13546d2; chr10:54600438-55000631 dbVar; 10:54938288-54938413 CMRI:0_pbsv.DEL.941_duplicate6
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 10:54935883-54938615
Repeat_type_left : L1MB8
Gap_left : .
GC_content_left : 0.240
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 10:54935883-54938615
Repeat_type_right : L1MB8
Gap_right : .
GC_content_right : 0.265
CHM13,HG00621,HG00733,HG00741,HG01071,HG01258[...]Samples_ID : CHM13,HG00621,HG00733,HG00741,HG01071,HG01258,HG01952,HG01978,HG02148,HG02572
>46265425>46265428ID : >46265425>46265428
GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAG[...]REF : GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAGTCTGCTAGTATTAAGTGAAATTTTTTTGTCTATATTCATTAAAGATATTACTTTATAGTTTTACTTACTCGTAATATTTCG
GALT : G
60QUAL : 60
.FILTER : .
AC=11; AF=0.123596; AN=89; AT=>46265425>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>46265425>46265426>46265427>46265428,>46265425>46265428; LV=0; NS=45; e=54938411; s=125; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|1HG00621 : 0|1
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
1|0HG00741 : 1|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
1|1HG01952 : 1|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 125
splitAnnotation_mode : split
PCDH15Gene_name : PCDH15;
LOEUF_bin : 4
GnomAD_pLI : 8.0283e-25
ExAC_pLI : 7.2312e-11
HI : 30
TS : 0
DDD_HI_percent : 23.23
ACMG : .
ExAC_cnvZ : -0.270961846367277
ExAC_delZ : -1.70907171020359
ExAC_dupZ : 0.649013663491648
ExAC_synZ : -0.472349288805724
ExAC_misZ : -2.87993087221192
GenCC_disease : Usher syndrome type 1; Usher syndrome type 1F; autosomal recessive nonsyndromic hearing loss 23; hearing loss, autosomal recessive; nonsyndromic genetic hearing loss
GenCC_moi : AR
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 11138007; 11398101; 11487575; 12711741; 12782354; 14570705; 1457075; 16260500; 19107147; 20301442[PMID]; 20301607[PMID]_24148127[PMID]; 21117948; 23767834; 25930172; 26226137; 28281779; 602083
NCBI_gene_ID : 65217
intron3-intron3Location : intron3-intron3
CytoBand : q21.1
Location2 : 5'UTR
Tx : NM_001354404
Tx_version : 2
Tx_start : 53821098
Tx_end : 55627942
Exon_count : 35
Overlapped_tx_length : 125
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 40785
Nearest_SS_type : 3'
Intersect_start : 54938285
Intersect_end : 54938410
605514; OMIM_ID : 605514;
OMIM_phenotype : Deafness, AR 23, 609533 (3) AR;
Usher syndrome, type 1D/F digenic, 601067 (3) Digenic recessive,AR;
Usher syndrome, type 1F, 602083 (3) AR;
OMIM_inheritance : AR; Digenic recessive,AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomA[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f
B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:54600438-55000631; chr10:54898740-55253759
B_loss_AFmax : 0.1396
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00621,HG00733,HG00741,HG01071,HG01258[...]Samples_ID : CHM13,HG00621,HG00733,HG00741,HG01071,HG01258,HG01952,HG01978,HG02148,HG02572
>46265425>46265428ID : >46265425>46265428
GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAG[...]REF : GGTTTAGCATAGTGTATAGTACTTTTTATATGTTGATGGATGTAGTCTGCTAGTATTAAGTGAAATTTTTTTGTCTATATTCATTAAAGATATTACTTTATAGTTTTACTTACTCGTAATATTTCG
GALT : G
60QUAL : 60
.FILTER : .
AC=11; AF=0.123596; AN=89; AT=>46265425>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>46265425>46265426>46265427>46265428,>46265425>46265428; LV=0; NS=45; e=54938411; s=125; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|1HG00621 : 0|1
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
1|0HG00741 : 1|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
1|1HG01952 : 1|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 124
Gene_count : 1
fullAnnotation_mode : full
EYSGene_name : EYS;
LOEUF_bin : 4
GnomAD_pLI : 3.7216e-41
ExAC_pLI : 8.2141e-09
HI : .
TS : .
DDD_HI_percent : 25.63
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -1.88695284058313
ExAC_misZ : -2.92292976137105
Closest_left : ZC3H11C
Closest_right : SLC25A51P1
.Location : .
CytoBand : q12
612424; OMIM_ID : 612424;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Retinitis pigmentosa 25, 602772 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16206488; dbVar:nssv17976865; dbVar:nssv17972972; dbVar:nssv16214019; dbVar:nssv15138420; dbVar:nssv18791637; dbVar:nssv16212174; dbVar:nssv16213873; dbVar:nssv18791630; morbid:EYS; dbVar:nssv15152024; dbVar:nssv18791632; dbVar:nssv17970930; dbVar:nssv16212573; dbVar:nssv18329435; dbVar:nssv17972023; dbVar:nssv16212880; dbVar:nssv17976383
po_P_loss_coord : 6:63956524-65484337; 6:64244795-78871961; 6:64388671-65707225; 6:64436165-65495865; 6:64549656-83426791; 6:64821636-65495865; 6:64902114-65495410; 6:64997573-65495865; 6:65295854-65707146; 6:65334896-65579804; 6:65353619-65494662; 6:65384367-65707225; 6:65384377-65495865; 6:65384387-65495410; 6:65384502-65490593; 6:65402459-65495993; 6:65402469-65495865; 6:65405369-65639777
po_P_loss_percent : 0.01; 0.00; 0.01; 0.01; 0.00; 0.02; 0.02; 0.02; 0.03; 0.05; 0.09; 0.04; 0.11; 0.11; 0.12; 0.13; 0.13; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DEL.4756; dbVar
B_loss_coord : chr6:65203540-65636799; chr6:65284956-66872862; 6:65478966-65479090; chr6:65478966-65479090; chr6:65478966-65479090
B_loss_AFmax : 0.3506
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr6:65284956-66872862 dbVar; chr6:65478966-65479090 HPRC:pbsv.DEL.4756; 6:65479009-65479187 esv2667605
po_B_loss_someG_coord : chr6:65203540-65636799 dbVar; 6:65478966-65479090 CMRI:3_pbsv.DEL.1378_duplicate3; chr6:65478966-65479090 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 6:65474063-65480149
Repeat_coord_left : 6:65478946-65479090
Repeat_type_left : L1M4a1
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 6:65474063-65480149
Repeat_coord_right : 6:65478946-65479090; 6:65479113-65479252
Repeat_type_right : L1M4a1; L1MEf
Gap_right : .
GC_content_right : 0.350
CHM13,HG00438,HG00733,HG01106,HG01123,HG01175[...]Samples_ID : CHM13,HG00438,HG00733,HG01106,HG01123,HG01175,HG01243,HG01952,HG01978,HG03492,NA21309
>30018422>30018424ID : >30018422>30018424
GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAAT[...]REF : GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAATAGTGAGAGGACCACAAATGGTTGAACTAAAATGAATAGAGCCTCAGTGACCAGTAGGAGAATTCTTAATCTACCATACCA
GALT : G
60QUAL : 60
.FILTER : .
AC=12; AF=0.134831; AN=89; AT=>30018422>[...]INFO : AC=12; AF=0.134831; AN=89; AT=>30018422>30018423>30018424,>30018422>30018424; LV=0; NS=45; e=65479090; s=124; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
1|0HG01106 : 1|0
0|0HG01109 : 0|0
1|0HG01123 : 1|0
1|1HG01175 : 1|1
1|0HG01243 : 1|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|1HG01952 : 0|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|1NA21309 : 0|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 124
splitAnnotation_mode : split
EYSGene_name : EYS;
LOEUF_bin : 4
GnomAD_pLI : 3.7216e-41
ExAC_pLI : 8.2141e-09
HI : 30
TS : .
DDD_HI_percent : 25.63
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -1.88695284058313
ExAC_misZ : -2.92292976137105
GenCC_disease : EYS-related retinopathy; retinitis pigmentosa; retinitis pigmentosa 25
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 18836446; 18976725; 20301590[PMID]; 20333770; 23591405; 27375351; 28678594; 9585594
NCBI_gene_ID : 346007
intron5-intron5Location : intron5-intron5
CytoBand : q12
Location2 : CDS
Tx : NM_001142800
Tx_version : 2
Tx_start : 63719979
Tx_end : 65707226
Exon_count : 43
Overlapped_tx_length : 124
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11504
Nearest_SS_type : 5'
Intersect_start : 65478965
Intersect_end : 65479089
612424; OMIM_ID : 612424;
OMIM_phenotype : Retinitis pigmentosa 25, 602772 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:3_pbsv.DEL.1378_duplicate3; HPRC:pbsv.DEL.4756; dbVar
B_loss_coord : chr6:65203540-65636799; chr6:65284956-66872862; 6:65478966-65479090; chr6:65478966-65479090; chr6:65478966-65479090
B_loss_AFmax : 0.3506
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00733,HG01106,HG01123,HG01175[...]Samples_ID : CHM13,HG00438,HG00733,HG01106,HG01123,HG01175,HG01243,HG01952,HG01978,HG03492,NA21309
>30018422>30018424ID : >30018422>30018424
GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAAT[...]REF : GTAAACTCAGAAATTTATCCAACGAAATTATCTAATCTGTAGAATAGTGAGAGGACCACAAATGGTTGAACTAAAATGAATAGAGCCTCAGTGACCAGTAGGAGAATTCTTAATCTACCATACCA
GALT : G
60QUAL : 60
.FILTER : .
AC=12; AF=0.134831; AN=89; AT=>30018422>[...]INFO : AC=12; AF=0.134831; AN=89; AT=>30018422>30018423>30018424,>30018422>30018424; LV=0; NS=45; e=65479090; s=124; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
1|0HG01106 : 1|0
0|0HG01109 : 0|0
1|0HG01123 : 1|0
1|1HG01175 : 1|1
1|0HG01243 : 1|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|1HG01952 : 0|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|1NA21309 : 0|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2C-2 (PAPPA2,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 556
Gene_count : 1
fullAnnotation_mode : full
PAPPA2Gene_name : PAPPA2;
LOEUF_bin : 2
GnomAD_pLI : 7.7879e-08
ExAC_pLI : 1.2501e-03
HI : .
TS : .
DDD_HI_percent : 46.27
ExAC_cnvZ : 0.877117721466105
ExAC_delZ : -0.12136013905314
ExAC_dupZ : 1.45343378844928
ExAC_synZ : 0.443411420336903
ExAC_misZ : 0.299864498733898
Closest_left : LOC124904756
Closest_right : ASTN1
.Location : .
CytoBand : q25.2
619485; OMIM_ID : 619485;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15129680; dbVar:nssv15156891; dbVar:nssv15141825; dbVar:nssv15135159; dbVar:nssv17970241; dbVar:nssv15139640; dbVar:nssv15138384; dbVar:nssv17970264; dbVar:nssv15754919; dbVar:nssv15140038; dbVar:nssv15157540; dbVar:nssv15133418
po_P_loss_coord : 1:120836008-206268643; 1:159845853-177057847; 1:161707104-184102589; 1:169218237-178075834; 1:169904015-181854845; 1:170036069-187555148; 1:170929721-191065409; 1:172020890-195117628; 1:172683204-183569154; 1:172773813-181845361; 1:173162770-187437400; 1:175035041-186042595
po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr1_339fd21dB_loss_source : gnomAD-SV_v3_DEL_chr1_339fd21d
B_loss_coord : chr1:168349020-187167586
B_loss_AFmax : 0.9262
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 1:176509081-176509637 CMRI:0_pbsv.DEL.2042; chr1:176509081-176509637 dbVar; chr1:176509096-176509637 gnomAD-SV_v3_DEL_chr1_54794de2
po_B_loss_someG_coord : chr1:168349020-187167586 gnomAD-SV_v3_DEL_chr1_339fd21d; chr1:176509081-176509637 HPRC:pbsv.DEL.11167; chr1:176509096-176509637 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 1:176508990-176509030; 1:176509041-176509094; 1:176509101-176509267
Repeat_type_left : L1ME1; (AATATAT)n; MSTA
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 1:176509316-176509635; 1:176509652-176509721; 1:176509722-176510067
Repeat_type_right : THE1D; L1ME1; AluJb
Gap_right : .
GC_content_right : 0.410
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>4707006>4707008ID : >4707006>4707008
TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTAT[...]REF : TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCACTCCCCCAACATGTGAGGATGACAATTTGATATGAGACTTGGGTGGGAACACAGAGCCACACCATATCATCTAACATATATATATGTCAGACTGCTTGAAATTTTTCCAAAAGCCATTGTATTAGTCCGTTTTCACACTGCTATAAAGAACTACCTGAGACTGAGTAATTTATTTTTTAAAAAAAAGGTCTAATTGATTCACAGCTCCACATGGCTGAGGAAGCCTCAGGACACTTATGATCATGGCAGAAGATGATGGCGAAGCAAGGCACATATTCCATGGCAGCAGGAGGGAGAGGGTGAAGGGGGACAGTGTTACACTTTTAAACAAAATGATCTCATAAGAACTCACTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCGCTCCCCCAACATGTGAGGATGAAATTAGAGAATATGT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>4707006>4707007[...]INFO : AC=89; AF=1; AN=89; AT=>4707006>4707007>4707008,>4707006>4707008; LV=0; NS=45; e=176509652; s=556; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 556
splitAnnotation_mode : split
PAPPA2Gene_name : PAPPA2;
LOEUF_bin : 2
GnomAD_pLI : 7.7879e-08
ExAC_pLI : 1.2501e-03
HI : .
TS : .
DDD_HI_percent : 46.27
ACMG : .
ExAC_cnvZ : 0.877117721466105
ExAC_delZ : -0.12136013905314
ExAC_dupZ : 1.45343378844928
ExAC_synZ : 0.443411420336903
ExAC_misZ : 0.299864498733898
GenCC_disease : Short stature, Dauber-Argente type
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 26902202; 30977789
NCBI_gene_ID : 60676
intron1-intron1Location : intron1-intron1
CytoBand : q25.2
Location2 : 5'UTR
Tx : NM_021936
Tx_version : 3
Tx_start : 176463174
Tx_end : 176691205
Exon_count : 5
Overlapped_tx_length : 556
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 45677
Nearest_SS_type : 5'
Intersect_start : 176509095
Intersect_end : 176509651
619485; OMIM_ID : 619485;
OMIM_phenotype : Short stature, Dauber-Argente type, 619489 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr1_339fd21dB_loss_source : gnomAD-SV_v3_DEL_chr1_339fd21d
B_loss_coord : chr1:168349020-187167586
B_loss_AFmax : 0.9262
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>4707006>4707008ID : >4707006>4707008
TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTAT[...]REF : TGATGCACTATTTAATCAGAGGTCAGATGAGAAGTGGCTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCACTCCCCCAACATGTGAGGATGACAATTTGATATGAGACTTGGGTGGGAACACAGAGCCACACCATATCATCTAACATATATATATGTCAGACTGCTTGAAATTTTTCCAAAAGCCATTGTATTAGTCCGTTTTCACACTGCTATAAAGAACTACCTGAGACTGAGTAATTTATTTTTTAAAAAAAAGGTCTAATTGATTCACAGCTCCACATGGCTGAGGAAGCCTCAGGACACTTATGATCATGGCAGAAGATGATGGCGAAGCAAGGCACATATTCCATGGCAGCAGGAGGGAGAGGGTGAAGGGGGACAGTGTTACACTTTTAAACAAAATGATCTCATAAGAACTCACTCACTATCATGAGAACAGCAAGGGAGAAATCCACCCCCATGATTCAATCATTTCCCACGAGGTCGCTCCCCCAACATGTGAGGATGAAATTAGAGAATATGT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>4707006>4707007[...]INFO : AC=89; AF=1; AN=89; AT=>4707006>4707007>4707008,>4707006>4707008; LV=0; NS=45; e=176509652; s=556; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 347
Gene_count : 1
fullAnnotation_mode : full
LOC105372544Gene_name : LOC105372544;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : OTOR
Closest_right : LOC105372545
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567
po_P_loss_coord : 20:8591050-22108012
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.225_duplicate5; dbVarB_loss_source : CMRI:0_pbsv.DEL.225_duplicate5; dbVar
B_loss_coord : 20:17122806-17123153; chr20:17122806-17123153
B_loss_AFmax : 0.9801
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:17122806-17123128 gnomAD-SV_v3_DEL_chr20_a6b8b5f3; 20:17122806-17123153 CMRI:0_pbsv.DEL.225_duplicate5;
po_B_loss_someG_coord : chr20:17122806-17123128 dbVar; chr20:17122806-17123150 HPRC:pbsv.DEL.1295; chr20:17122806-17123153 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:17121234-17122803; 20:17122804-17123129
Repeat_type_left : L1MC3; AluYa5
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:17122804-17123129; 20:17123130-17123413
Repeat_type_right : AluYa5; L1MC3
Gap_right : .
GC_content_right : 0.440
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>73463907>73463909ID : >73463907>73463909
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTATTCACTTCTTTAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>73463907>734639[...]INFO : AC=89; AF=1; AN=89; AT=>73463907>73463908>73463909,>73463907>73463909; LV=0; NS=45; e=17123153; s=347; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 347
splitAnnotation_mode : split
LOC105372544Gene_name : LOC105372544;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : p12.1
Location2 : UTR
Tx : XR_937288
Tx_version : 2
Tx_start : 17122177
Tx_end : 17152512
Exon_count : 3
Overlapped_tx_length : 347
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 571
Nearest_SS_type : 5'
Intersect_start : 17122805
Intersect_end : 17123152
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.225_duplicate5; dbVarB_loss_source : CMRI:0_pbsv.DEL.225_duplicate5; dbVar
B_loss_coord : 20:17122806-17123153; chr20:17122806-17123153
B_loss_AFmax : 0.9801
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>73463907>73463909ID : >73463907>73463909
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTATTCACTTCTTTAAAAAAAA
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>73463907>734639[...]INFO : AC=89; AF=1; AN=89; AT=>73463907>73463908>73463909,>73463907>73463909; LV=0; NS=45; e=17123153; s=347; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 651
Gene_count : 1
fullAnnotation_mode : full
CEACAM22PGene_name : CEACAM22P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : CEACAM20
Closest_right : IGSF23
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147682
po_P_loss_coord : 19:42509214-46738277
po_P_loss_percent : 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr19:44522391-44555906
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 19:44546227-44546890 CMRI:0_pbsv.DEL.831_duplicate9; chr19:44546246-44546890 gnomAD-SV_v3_DEL_chr19_a89526d0
po_B_loss_someG_coord : chr19:44522391-44555906 dbVar; chr19:44546227-44546890 HPRC:pbsv.DEL.5179
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 19:44546242-44546318; 19:44546319-44546890
Repeat_type_left : (T)n; L1HS
Gap_left : .
GC_content_left : 0.170
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 19:44546319-44546890
Repeat_type_right : L1HS
Gap_right : .
GC_content_right : 0.325
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>70691419>70691422ID : >70691419>70691422
TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTT[...]REF : TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGGGTGGCATATAATAT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>70691419>706914[...]INFO : AC=89; AF=1; AN=89; AT=>70691419>70691420>70691421>70691422,>70691419>70691422; LV=0; NS=45; e=44546905; s=651; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 651
splitAnnotation_mode : split
CEACAM22PGene_name : CEACAM22P;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 388550
intron3-intron3Location : intron3-intron3
CytoBand : q13.31
Location2 : UTR
Tx : NR_027754
Tx_version : 2
Tx_start : 44537057
Tx_end : 44556917
Exon_count : 8
Overlapped_tx_length : 651
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 274
Nearest_SS_type : 5'
Intersect_start : 44546253
Intersect_end : 44546904
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr19:44522391-44555906
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>70691419>70691422ID : >70691419>70691422
TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTT[...]REF : TTTTTTTTTTTTTTTTTTTTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGGGTGGCATATAATAT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>70691419>706914[...]INFO : AC=89; AF=1; AN=89; AT=>70691419>70691420>70691421>70691422,>70691419>70691422; LV=0; NS=45; e=44546905; s=651; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 363
Gene_count : 1
fullAnnotation_mode : full
ANKRD30BGene_name : ANKRD30B;
LOEUF_bin : 4
GnomAD_pLI : 1.5988e-21
ExAC_pLI : 1.4947e-09
HI : .
TS : .
DDD_HI_percent : 95.47
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.353828210547334
ExAC_misZ : -0.434066748454393
Closest_left : LOC105372008
Closest_right : MIR3156-2
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150750; dbVar:nssv18792749; dbVar:nssv17955800; dbVar:nssv15151907; dbVar:nssv16208662; dbVar:nssv15151600; dbVar:nssv15127405; dbVar:nssv15147565; dbVar:nssv15148923; dbVar:nssv15147522; dbVar:nssv15146528; dbVar:nssv17969148; dbVar:nssv15150379; dbVar:nssv16208986; dbVar:nssv15152480; dbVar:nssv15151881; nssv17969150; dbVar:nssv16208516; dbVar:nssv16208515; dbVar:nssv17955847; dbVar:nssv16254982
po_P_loss_coord : 18:10002-15157837; 18:10002-15400036; 18:10502-15410399; 18:13035-15026310; 18:13035-15330526; 18:13035-15375879; 18:14276-20949945; 18:14317-15328500; 18:48783-14978076; 18:118761-15024003; 18:131701-15121055; 18:136227-14983939; 18:136227-15157837; 18:136227-15175006; 18:136227-15198990; 18:136227-15198991; 18:136227-20949617; 18:136305-15143715; 18:1262334-55587520; 18:7598176-15410899
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr18:14682499-15296001; chr18:14773445-14830619; chr18:14815740-14838589
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr18:14773445-14830619 dbVar; 18:14822942-14823305 CMRI:0_pbsv.DEL.202_duplicate7; chr18:14822956-14823305 gnomAD-SV_v3_DEL_chr18_7aa9cf21
po_B_loss_someG_coord : chr18:14682499-15296001 dbVar; chr18:14815740-14838589 dbVar; chr18:14822942-14823305 HPRC:pbsv.DEL.1158
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 18:14807069-14897138; 18:14810884-14822862; 18:14811561-14822892; 18:14822321-14823743
Repeat_coord_left : 18:14822953-14823017; 18:14823018-14823305
Repeat_type_left : (T)n; AluYb8
Gap_left : .
GC_content_left : 0.275
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 18:14807069-14897138; 18:14822321-14823743
Repeat_coord_right : 18:14823018-14823305
Repeat_type_right : AluYb8
Gap_right : .
GC_content_right : 0.490
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>69828967>69828965ID : >69828967>69828965
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTGCTTGGTTTT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>69828967>698289[...]INFO : AC=89; AF=1; AN=89; AT=>69828967>69828966>69828965,>69828967>69828965; LV=0; NS=45; e=14823319; s=363; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 363
splitAnnotation_mode : split
ANKRD30BGene_name : ANKRD30B;
LOEUF_bin : 4
GnomAD_pLI : 1.5988e-21
ExAC_pLI : 1.4947e-09
HI : .
TS : .
DDD_HI_percent : 95.47
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.353828210547334
ExAC_misZ : -0.434066748454393
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 374860
intron32-intron32Location : intron32-intron32
CytoBand : p11.21
Location2 : CDS
Tx : XM_011525665
Tx_version : 3
Tx_start : 14748171
Tx_end : 14848854
Exon_count : 40
Overlapped_tx_length : 363
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 278
Nearest_SS_type : 5'
Intersect_start : 14822955
Intersect_end : 14823318
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr18:14682499-15296001; chr18:14773445-14830619; chr18:14815740-14838589
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>69828967>69828965ID : >69828967>69828965
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTGCTTGGTTTT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>69828967>698289[...]INFO : AC=89; AF=1; AN=89; AT=>69828967>69828966>69828965,>69828967>69828965; LV=0; NS=45; e=14823319; s=363; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 292
Gene_count : 1
fullAnnotation_mode : full
CMC2Gene_name : CMC2;
LOEUF_bin : 8
GnomAD_pLI : 1.9910e-01
ExAC_pLI : 1.4921e-03
HI : .
TS : .
DDD_HI_percent : 29.9
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.536973104388645
ExAC_misZ : -1.15581934989864
Closest_left : ARLNC1
Closest_right : CENPN
.Location : .
CytoBand : q23.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147241; dbVar:nssv15133204; dbVar:nssv15119906; dbVar:nssv15120347; dbVar:nssv15132549; dbVar:nssv16208474; dbVar:nssv16253958; dbVar:nssv15144781
po_P_loss_coord : 16:70414574-84908120; 16:73049468-82576326; 16:78704276-87819342; 16:78790451-83255421; 16:79455148-81109328; 16:80442715-82364001; 16:80449729-82010547; 16:80589367-81377616
po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.02; 0.02; 0.02; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214
B_loss_coord : chr16:80814180-82912659; chr16:80954497-81003876; chr16:80965982-80996010
B_loss_AFmax : 0.1717
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr16:80954497-81003876 dbVar; 16:80980230-80980522 CMRI:0_pbsv.DEL.1036_duplicate5; chr16:80980285-80980620 gnomAD-SV_v3_DEL_chr16_bfe57b54
po_B_loss_someG_coord : chr16:80814180-82912659 gnomAD-SV_v3_DEL_chr16_cbe90214; chr16:80965982-80996010 dbVar; chr16:80980230-80980522 HPRC:pbsv.DEL.5852
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 16:80980316-80980519
Repeat_type_left : AluSp
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 16:80980608-80980913
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.405
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
<64132114<64132116ID : <64132114<64132116
TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCA[...]REF : TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>64132116>641321[...]INFO : AC=89; AF=1; AN=89; AT=>64132116>64132115>64132114,>64132116>64132114; LV=0; NS=45; e=80980645; s=292; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 292
splitAnnotation_mode : split
CMC2Gene_name : CMC2;
LOEUF_bin : 8
GnomAD_pLI : 1.9910e-01
ExAC_pLI : 1.4921e-03
HI : .
TS : .
DDD_HI_percent : 29.9
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.536973104388645
ExAC_misZ : -1.15581934989864
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 56942
intron2-intron2Location : intron2-intron2
CytoBand : q23.2
Location2 : CDS
Tx : NM_001351973
Tx_version : 2
Tx_start : 80966447
Tx_end : 80997676
Exon_count : 3
Overlapped_tx_length : 292
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1161
Nearest_SS_type : 5'
Intersect_start : 80980352
Intersect_end : 80980644
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr16_cbe90214
B_loss_coord : chr16:80814180-82912659; chr16:80954497-81003876; chr16:80965982-80996010
B_loss_AFmax : 0.1717
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
<64132114<64132116ID : <64132114<64132116
TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCA[...]REF : TTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGACTCACCCTAGGTGTATTTTTCATGTAAACTGGCTTTTTCATATAAAGGACAAACATTTTTAGTAAATAATTTAAAAACACTAATAAGGCTGGGAATGGTGACTCATGTCTGTAGTCCCAGCACT
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>64132116>641321[...]INFO : AC=89; AF=1; AN=89; AT=>64132116>64132115>64132114,>64132116>64132114; LV=0; NS=45; e=80980645; s=292; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 332
Gene_count : 1
fullAnnotation_mode : full
KIF24Gene_name : KIF24;
LOEUF_bin : 4
GnomAD_pLI : 1.3904e-17
ExAC_pLI : 7.5646e-14
HI : .
TS : .
DDD_HI_percent : 65.85
ExAC_cnvZ : -1.91161315469393
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.370267519352593
ExAC_synZ : -0.745003612389619
ExAC_misZ : -1.37644284391606
Closest_left : LOC114224
Closest_right : NUDT2
.Location : .
CytoBand : p13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15132770
po_P_loss_coord : 9:33572682-36782015
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL[...]B_loss_source : CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL.2153; dbVar; gnomAD-SV_v3_DEL_chr9_36151257; gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681; chr9:34267077-34282789; 9:34274435-34274768; chr9:34274435-34274768; chr9:34274437-34274772
B_loss_AFmax : 0.8845
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr9:34267077-34282789 dbVar; 9:34274435-34274768 CMRI:1_pbsv.DEL.409_duplicate3; chr9:34274437-34274772 gnomAD-SV_v3_DEL_chr9_36151257
po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761; chr9:34274430-34274762 dbVar; chr9:34274435-34274768 HPRC:pbsv.DEL.2153
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 9:34273008-34275008
Repeat_coord_left : 9:34274314-34274437; 9:34274438-34274735
Repeat_type_left : L1MA1; AluSq2
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 9:34273008-34275008
Repeat_coord_right : 9:34274438-34274735; 9:34274736-34275109
Repeat_type_right : AluSq2; L1MA1
Gap_right : .
GC_content_right : 0.385
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02572,HG02622,HG02630,HG03098,HG03453,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>42370418>42370416ID : >42370418>42370416
AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGA[...]REF : AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGACCAATATGATGAAACCCCGTCTGTACTAAAAATAGAACAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCAACATTGCACGCCAGCTTGAACAACAAGAGCAAAATCTGTCTCCAAAGAAAAAAAAAAAGAGTAAAGTGAAAGAACTTAAACAAGGATGGATT
AALT : A
60QUAL : 60
.FILTER : .
AC=59; AF=0.662921; AN=89; AT=>42370418>[...]INFO : AC=59; AF=0.662921; AN=89; AT=>42370418>42370417>42370416,>42370418>42370416; LV=0; NS=45; e=34274769; s=332; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
0|1HG00735 : 0|1
1|1HG00741 : 1|1
0|1HG01071 : 0|1
0|1HG01106 : 0|1
1|0HG01109 : 1|0
1|1HG01123 : 1|1
1|0HG01175 : 1|0
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
0|1HG01891 : 0|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|0HG02109 : 1|0
1|0HG02145 : 1|0
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
0|0HG02559 : 0|0
0|1HG02572 : 0|1
1|0HG02622 : 1|0
1|0HG02630 : 1|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|1HG03098 : 0|1
0|1HG03453 : 0|1
0|0HG03486 : 0|0
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|0HG03540 : 1|0
0|1HG03579 : 0|1
0|1NA18906 : 0|1
0|1NA20129 : 0|1
1|0NA21309 : 1|0
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 332
splitAnnotation_mode : split
KIF24Gene_name : KIF24;
LOEUF_bin : 4
GnomAD_pLI : 1.3904e-17
ExAC_pLI : 7.5646e-14
HI : .
TS : .
DDD_HI_percent : 65.85
ACMG : .
ExAC_cnvZ : -1.91161315469393
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.370267519352593
ExAC_synZ : -0.745003612389619
ExAC_misZ : -1.37644284391606
GenCC_disease : schizophrenia
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 347240
intron3-intron3Location : intron3-intron3
CytoBand : p13.3
Location2 : CDS
Tx : XM_047423344
Tx_version : 1
Tx_start : 34252379
Tx_end : 34306437
Exon_count : 10
Overlapped_tx_length : 332
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2506
Nearest_SS_type : 3'
Intersect_start : 34274436
Intersect_end : 34274768
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL[...]B_loss_source : CMRI:1_pbsv.DEL.409_duplicate3; HPRC:pbsv.DEL.2153; dbVar; gnomAD-SV_v3_DEL_chr9_36151257; gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681; chr9:34267077-34282789; 9:34274435-34274768; chr9:34274435-34274768; chr9:34274437-34274772
B_loss_AFmax : 0.8845
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02572,HG02622,HG02630,HG03098,HG03453,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>42370418>42370416ID : >42370418>42370416
AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGA[...]REF : AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGACCAATATGATGAAACCCCGTCTGTACTAAAAATAGAACAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCAACATTGCACGCCAGCTTGAACAACAAGAGCAAAATCTGTCTCCAAAGAAAAAAAAAAAGAGTAAAGTGAAAGAACTTAAACAAGGATGGATT
AALT : A
60QUAL : 60
.FILTER : .
AC=59; AF=0.662921; AN=89; AT=>42370418>[...]INFO : AC=59; AF=0.662921; AN=89; AT=>42370418>42370417>42370416,>42370418>42370416; LV=0; NS=45; e=34274769; s=332; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
0|1HG00735 : 0|1
1|1HG00741 : 1|1
0|1HG01071 : 0|1
0|1HG01106 : 0|1
1|0HG01109 : 1|0
1|1HG01123 : 1|1
1|0HG01175 : 1|0
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
0|1HG01891 : 0|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|0HG02109 : 1|0
1|0HG02145 : 1|0
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
0|0HG02559 : 0|0
0|1HG02572 : 0|1
1|0HG02622 : 1|0
1|0HG02630 : 1|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|1HG03098 : 0|1
0|1HG03453 : 0|1
0|0HG03486 : 0|0
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|0HG03540 : 1|0
0|1HG03579 : 0|1
0|1NA18906 : 0|1
0|1NA20129 : 0|1
1|0NA21309 : 1|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 144
Gene_count : 1
fullAnnotation_mode : full
LOC124901685Gene_name : LOC124901685;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107986812
Closest_right : CD36
.Location : .
CytoBand : q21.11
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15146320; dbVar:nssv15147202; dbVar:nssv15148954; dbVar:nssv15167751; dbVar:nssv17970227; dbVar:nssv15124457
po_P_loss_coord : 7:54186-159282390; 7:71225345-81735657; 7:73873421-83988860; 7:74377396-82031742; 7:75959387-80648316; 7:77681328-84831773; 7:79708364-87161076
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr7:80423736-80562669; chr7:80453738-80584904; chr7:80488039-80564109; chr7:80506684-80593184; chr7:80528339-80528845
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr7:80453738-80584904 dbVar; chr7:80506684-80593184 dbVar; chr7:80528336-80528480 HPRC:pbsv.DEL.7130; chr7:80528339-80528480 gnomAD-SV_v3_DEL_chr7_549fab00; 7:80528340-80528480 IMH
po_B_loss_someG_coord : chr7:80423736-80562669 dbVar; chr7:80488039-80564109 dbVar; 7:80528336-80528480 CMRI:11_pbsv.DEL.2154_duplicate2; 7:80528337-80528480 esv2657293; chr7:80528339-80528845 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 7:80527790-80529351
Repeat_type_left : L1M3e
Gap_left : .
GC_content_left : 0.590
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 7:80527790-80529351
Repeat_type_right : L1M3e
Gap_right : .
GC_content_right : 0.605
CHM13,HG01243,HG02055,HG02109,HG02145,HG02257[...]Samples_ID : CHM13,HG01243,HG02055,HG02109,HG02145,HG02257,HG02486,HG02559,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03540,NA18906,NA20129,NA21309
>32851057>32851059ID : >32851057>32851059
CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGAC[...]REF : CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGACTTGACACCCCCGGTTGGTCTCAGTCACCAGGCCAGCACTCATAGGCTCCAGGCCTGCCCAGTGCCAGGCCAGCTCCTGTAGCCCCACCCTCCAGGCTAGC
CALT : C
60QUAL : 60
.FILTER : .
AC=24; AF=0.269663; AN=89; AT=>32851057>[...]INFO : AC=24; AF=0.269663; AN=89; AT=>32851057>32851058>32851059,>32851057>32851059; LV=0; NS=45; e=80528483; s=144; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
1|1HG01243 : 1|1
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|1HG02055 : 0|1
0|0HG02080 : 0|0
1|0HG02109 : 1|0
1|0HG02145 : 1|0
0|0HG02148 : 0|0
0|1HG02257 : 0|1
1|1HG02486 : 1|1
1|0HG02559 : 1|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
1|0HG02630 : 1|0
1|1HG02717 : 1|1
0|1HG02723 : 0|1
0|1HG02818 : 0|1
1|0HG02886 : 1|0
1|0HG03098 : 1|0
1|0HG03453 : 1|0
1|1HG03486 : 1|1
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
1|0NA20129 : 1|0
0|1NA21309 : 0|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 144
splitAnnotation_mode : split
LOC124901685Gene_name : LOC124901685;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : q21.11
Location2 : UTR
Tx : XR_007060402
Tx_version : 1
Tx_start : 80524846
Tx_end : 80546667
Exon_count : 3
Overlapped_tx_length : 144
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3423
Nearest_SS_type : 5'
Intersect_start : 80528338
Intersect_end : 80528482
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr7:80423736-80562669; chr7:80453738-80584904; chr7:80488039-80564109; chr7:80506684-80593184; chr7:80528339-80528845
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01243,HG02055,HG02109,HG02145,HG02257[...]Samples_ID : CHM13,HG01243,HG02055,HG02109,HG02145,HG02257,HG02486,HG02559,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03540,NA18906,NA20129,NA21309
>32851057>32851059ID : >32851057>32851059
CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGAC[...]REF : CTCACATAGCTCCAGGTTTCAGGCCCACTTCAGGGCCAGGTTGACTTGACACCCCCGGTTGGTCTCAGTCACCAGGCCAGCACTCATAGGCTCCAGGCCTGCCCAGTGCCAGGCCAGCTCCTGTAGCCCCACCCTCCAGGCTAGC
CALT : C
60QUAL : 60
.FILTER : .
AC=24; AF=0.269663; AN=89; AT=>32851057>[...]INFO : AC=24; AF=0.269663; AN=89; AT=>32851057>32851058>32851059,>32851057>32851059; LV=0; NS=45; e=80528483; s=144; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
1|1HG01243 : 1|1
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|1HG02055 : 0|1
0|0HG02080 : 0|0
1|0HG02109 : 1|0
1|0HG02145 : 1|0
0|0HG02148 : 0|0
0|1HG02257 : 0|1
1|1HG02486 : 1|1
1|0HG02559 : 1|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
1|0HG02630 : 1|0
1|1HG02717 : 1|1
0|1HG02723 : 0|1
0|1HG02818 : 0|1
1|0HG02886 : 1|0
1|0HG03098 : 1|0
1|0HG03453 : 1|0
1|1HG03486 : 1|1
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
1|0NA20129 : 1|0
0|1NA21309 : 0|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 119
Gene_count : 1
fullAnnotation_mode : full
CXCL13Gene_name : CXCL13;
LOEUF_bin : 2
GnomAD_pLI : 8.2566e-01
ExAC_pLI : 4.6140e-01
HI : .
TS : .
DDD_HI_percent : 97.1
ExAC_cnvZ : 0.405518950522118
ExAC_delZ : 0.273267083955463
ExAC_dupZ : 0.338336213634979
ExAC_synZ : 0.158916641649967
ExAC_misZ : -0.210919252825269
Closest_left : LOC105377295
Closest_right : LOC105377296
.Location : .
CytoBand : q21.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15125766; dbVar:nssv18830797; dbVar:nssv16207960; dbVar:nssv16254734; dbVar:nssv16207962; dbVar:nssv17969955; dbVar:nssv15146323
po_P_loss_coord : 4:58301080-100989502; 4:67833056-82716065; 4:68084646-78817444; 4:70546693-86999632; 4:71815163-85505079; 4:72189597-79162000; 4:75453112-84094295
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v[...]B_loss_source : CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v3_DEL_chr4_aa7116c9
B_loss_coord : chr4:73564711-189048534; 4:77562591-77562710
B_loss_AFmax : 0.2162
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 4:77562591-77562710 CMRI:12_pbsv.DEL.1412_duplicate2
po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:77561705-77563267
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.415
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:77561705-77563267
Repeat_type_right : LTR12C
Gap_right : .
GC_content_right : 0.430
CHM13,HG02055,HG02109,HG02486,HG02559,HG02723[...]Samples_ID : CHM13,HG02055,HG02109,HG02486,HG02559,HG02723,HG02886,HG03540
>19978260>19978262ID : >19978260>19978262
TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTG[...]REF : TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTGTATCTAGCTAATCTGGTGGGGACTTGGAGAACCTTTATGTCTAGCTAAAGGATTGTAAACATACCAATCAGCACC
TALT : T
60QUAL : 60
.FILTER : .
AC=7; AF=0.0786517; AN=89; AT=>19978260>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>19978260>19978261>19978262,>19978260>19978262; LV=0; NS=45; e=77562710; s=119; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|0HG02055 : 1|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
1|0HG02559 : 1|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 119
splitAnnotation_mode : split
CXCL13Gene_name : CXCL13;
LOEUF_bin : 2
GnomAD_pLI : 8.2566e-01
ExAC_pLI : 4.6140e-01
HI : .
TS : .
DDD_HI_percent : 97.1
ACMG : .
ExAC_cnvZ : 0.405518950522118
ExAC_delZ : 0.273267083955463
ExAC_dupZ : 0.338336213634979
ExAC_synZ : 0.158916641649967
ExAC_misZ : -0.210919252825269
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10563
intron1-intron1Location : intron1-intron1
CytoBand : q21.1
Location2 : 5'UTR
Tx : NM_006419
Tx_version : 3
Tx_start : 77511752
Tx_end : 77611834
Exon_count : 5
Overlapped_tx_length : 119
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 43114
Nearest_SS_type : 3'
Intersect_start : 77562590
Intersect_end : 77562709
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v[...]B_loss_source : CMRI:12_pbsv.DEL.1412_duplicate2; gnomAD-SV_v3_DEL_chr4_aa7116c9
B_loss_coord : chr4:73564711-189048534; 4:77562591-77562710
B_loss_AFmax : 0.2162
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02055,HG02109,HG02486,HG02559,HG02723[...]Samples_ID : CHM13,HG02055,HG02109,HG02486,HG02559,HG02723,HG02886,HG03540
>19978260>19978262ID : >19978260>19978262
TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTG[...]REF : TCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGCACTCTGTATCTAGCTAATCTGGTGGGGACTTGGAGAACCTTTATGTCTAGCTAAAGGATTGTAAACATACCAATCAGCACC
TALT : T
60QUAL : 60
.FILTER : .
AC=7; AF=0.0786517; AN=89; AT=>19978260>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>19978260>19978261>19978262,>19978260>19978262; LV=0; NS=45; e=77562710; s=119; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|0HG02055 : 1|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
1|0HG02559 : 1|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 122
Gene_count : 1
fullAnnotation_mode : full
LOC107986108Gene_name : LOC107986108;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105374021
Closest_right : LOC105374023
.Location : .
CytoBand : q13.11
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147282; dbVar:nssv15146259; dbVar:nssv18842017; dbVar:nssv15147452; dbVar:nssv15128639; dbVar:nssv16207911; dbVar:nssv15145667
po_P_loss_coord : 3:93819624-116887056; 3:93886672-123216683; 3:93979548-124774010; 3:97795370-115663349; 3:101431894-116529740; 3:102093402-112455638; 3:103692221-109605902
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DEL.6290; dbVar; esv2674777; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_c483a30d
B_loss_coord : chr3:11110259-145805573; chr3:104382742-105065366; chr3:104541962-104731289; chr3:104696038-104700864; chr3:104697464-104697601; chr3:104697464-104697601; 3:104697465-104697601; 3:104697472-104697594; chr3:104697472-104697594
B_loss_AFmax : 0.8347
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr3:104382742-105065366 dbVar; chr3:104696038-104700864 dbVar; chr3:104697464-104697601 gnomAD-SV_v3_DEL_chr3_c483a30d; 3:104697472-104697594 CMRI:1_pbsv.DEL.1128_duplicate3;
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286; chr3:104541962-104731289 dbVar; chr3:104697464-104697601 dbVar; 3:104697465-104697601 esv2674777; chr3:104697472-104697594 HPRC:pbsv.DEL.6290
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:104697464-104697600
Repeat_type_left : L1P2
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:104697464-104697600
Repeat_type_right : L1P2
Gap_right : .
GC_content_right : 0.455
CHM13,HG00438,HG00621,HG00673,HG00733,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00741,HG01071,HG01106,HG01123,HG01175,HG01243,HG01258,HG01358,HG01891,HG01928,HG01952,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>13374078>13374075ID : >13374078>13374075
CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAA[...]REF : CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAACAGACTCGCAGCTGAGGGACCTGACTCTCACAAGGAAAACTAACAAACAGAAAGGAATAGTATCAACATTAACAAAAAGGACATA
CCCCAAGCALT : CCCCAAGC
60QUAL : 60
.FILTER : .
AC=66; AF=0.741573; AN=89; AT=>13374078>[...]INFO : AC=66; AF=0.741573; AN=89; AT=>13374078>13374076>13374075,>13374078>13374077>13374075; LV=0; NS=45; e=104697601; s=129; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
0|1HG00733 : 0|1
0|0HG00735 : 0|0
1|0HG00741 : 1|0
0|1HG01071 : 0|1
1|1HG01106 : 1|1
0|0HG01109 : 0|0
1|0HG01123 : 1|0
1|0HG01175 : 1|0
1|1HG01243 : 1|1
1|0HG01258 : 1|0
0|1HG01358 : 0|1
0|0HG01361 : 0|0
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
0|0HG01978 : 0|0
1|1HG02055 : 1|1
0|1HG02080 : 0|1
1|1HG02109 : 1|1
0|1HG02145 : 0|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
0|1HG03098 : 0|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
0|1HG03492 : 0|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
0|1HG03579 : 0|1
0|1NA18906 : 0|1
1|1NA20129 : 1|1
1|0NA21309 : 1|0
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 122
splitAnnotation_mode : split
LOC107986108Gene_name : LOC107986108;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron3-intron3Location : intron3-intron3
CytoBand : q13.11
Location2 : UTR
Tx : XR_001740831
Tx_version : 1
Tx_start : 104630480
Tx_end : 104858020
Exon_count : 4
Overlapped_tx_length : 122
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 66892
Nearest_SS_type : 3'
Intersect_start : 104697471
Intersect_end : 104697593
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:1_pbsv.DEL.1128_duplicate3; HPRC:pbsv.DEL.6290; dbVar; esv2674777; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_c483a30d
B_loss_coord : chr3:11110259-145805573; chr3:104382742-105065366; chr3:104541962-104731289; chr3:104696038-104700864; chr3:104697464-104697601; chr3:104697464-104697601; 3:104697465-104697601; 3:104697472-104697594; chr3:104697472-104697594
B_loss_AFmax : 0.8347
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00741,HG01071,HG01106,HG01123,HG01175,HG01243,HG01258,HG01358,HG01891,HG01928,HG01952,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>13374078>13374075ID : >13374078>13374075
CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAA[...]REF : CAGGCAAAAAGCGTTTGCTGGAGTGGACCTCCAGCAAAACTCCAACAGACTCGCAGCTGAGGGACCTGACTCTCACAAGGAAAACTAACAAACAGAAAGGAATAGTATCAACATTAACAAAAAGGACATA
CCCCAAGCALT : CCCCAAGC
60QUAL : 60
.FILTER : .
AC=66; AF=0.741573; AN=89; AT=>13374078>[...]INFO : AC=66; AF=0.741573; AN=89; AT=>13374078>13374076>13374075,>13374078>13374077>13374075; LV=0; NS=45; e=104697601; s=129; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
0|1HG00733 : 0|1
0|0HG00735 : 0|0
1|0HG00741 : 1|0
0|1HG01071 : 0|1
1|1HG01106 : 1|1
0|0HG01109 : 0|0
1|0HG01123 : 1|0
1|0HG01175 : 1|0
1|1HG01243 : 1|1
1|0HG01258 : 1|0
0|1HG01358 : 0|1
0|0HG01361 : 0|0
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
0|0HG01978 : 0|0
1|1HG02055 : 1|1
0|1HG02080 : 0|1
1|1HG02109 : 1|1
0|1HG02145 : 0|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
0|1HG03098 : 0|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
0|1HG03492 : 0|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
0|1HG03579 : 0|1
0|1NA18906 : 0|1
1|1NA20129 : 1|1
1|0NA21309 : 1|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 267
Gene_count : 1
fullAnnotation_mode : full
LOC105376755Gene_name : LOC105376755;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01790
Closest_right : LOC105373817
.Location : .
CytoBand : q32.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15146209; dbVar:nssv15146426; dbVar:nssv15139744; dbVar:nssv15133598; dbVar:nssv17976941; dbVar:nssv15133754; dbVar:nssv18330771; dbVar:nssv15162684; dbVar:nssv18330068; dbVar:nssv16252261; dbVar:nssv15152822; dbVar:nssv15152716; dbVar:nssv15145974; dbVar:nssv15141794; dbVar:nssv15132676; dbVar:nssv15776705
po_P_loss_coord : 2:50659295-242160331; 2:174898849-203941548; 2:176304446-202039790; 2:176450426-195510796; 2:177874071-198525492; 2:184832933-212137349; 2:186027473-201059372; 2:186288028-199095802; 2:188625764-199750773; 2:189045179-208603658; 2:189480547-199347566; 2:190885477-201432653; 2:192673202-201163013; 2:192938827-215705052; 2:193716592-200887699; 2:194515160-198545937; 2:194922000-199666404
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DEL.13099; dbVar; gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659; chr2:195187090-195187359; 2:195187090-195187360; chr2:195187090-195187360
B_loss_AFmax : 0.9741
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr2:195187090-195187359 HPRC:pbsv.DEL.13099; chr2:195187090-195187360 dbVar; chr2:195187091-195187360 dbVar;
po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; 2:195187090-195187360 CMRI:0_pbsv.DEL.2336_duplicate1; 2:195187091-195187360 1000g; chr2:195187107-195187360 gnomAD-SV_v3_DEL_chr2_ff38de9f
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:195186907-195187006; 2:195187108-195187353
Repeat_type_left : MIRb; L1HS
Gap_left : .
GC_content_left : 0.425
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:195187108-195187353
Repeat_type_right : L1HS
Gap_right : .
GC_content_right : 0.355
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>11262613>11262615ID : >11262613>11262615
TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAAT[...]REF : TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGCAAGGGGAATATCACACTCGGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACTAGCCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAACATT
TALT : T
60QUAL : 60
.FILTER : .
AC=80; AF=0.898876; AN=89; AT=>11262613>[...]INFO : AC=80; AF=0.898876; AN=89; AT=>11262613>11262614>11262615,>11262613>11262615; LV=0; NS=45; e=195187357; s=267; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
0|1HG01891 : 0|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|0HG02145 : 1|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|1HG02486 : 0|1
0|1HG02559 : 0|1
1|1HG02572 : 1|1
1|0HG02622 : 1|0
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|0HG03540 : 1|0
0|1HG03579 : 0|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 267
splitAnnotation_mode : split
LOC105376755Gene_name : LOC105376755;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : q32.3
Location2 : UTR
Tx : XR_007088699
Tx_version : 1
Tx_start : 194726171
Tx_end : 195399504
Exon_count : 4
Overlapped_tx_length : 267
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 17621
Nearest_SS_type : 5'
Intersect_start : 195187089
Intersect_end : 195187356
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.2336_duplicate1; HPRC:pbsv.DEL.13099; dbVar; gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659; chr2:195187090-195187359; 2:195187090-195187360; chr2:195187090-195187360
B_loss_AFmax : 0.9741
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>11262613>11262615ID : >11262613>11262615
TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAAT[...]REF : TAAAAAATAGGTTGGCTGCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGCAAGGGGAATATCACACTCGGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACTTATGTAACTAGCCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAACATT
TALT : T
60QUAL : 60
.FILTER : .
AC=80; AF=0.898876; AN=89; AT=>11262613>[...]INFO : AC=80; AF=0.898876; AN=89; AT=>11262613>11262614>11262615,>11262613>11262615; LV=0; NS=45; e=195187357; s=267; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
0|1HG01891 : 0|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|0HG02145 : 1|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|1HG02486 : 0|1
0|1HG02559 : 0|1
1|1HG02572 : 1|1
1|0HG02622 : 1|0
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|0HG03540 : 1|0
0|1HG03579 : 0|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 100
Gene_count : 1
fullAnnotation_mode : full
EYA3Gene_name : EYA3;
LOEUF_bin : 0
GnomAD_pLI : 9.9702e-01
ExAC_pLI : 9.9504e-01
HI : .
TS : .
DDD_HI_percent : 14.1
ExAC_cnvZ : 0.89274182075407
ExAC_delZ : 1.30145471743479
ExAC_dupZ : 0.465858900596123
ExAC_synZ : 0.834750145935155
ExAC_misZ : 1.92145644982814
Closest_left : XKR8
Closest_right : PTAFR
.Location : .
CytoBand : p35.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD-SV_v3_DEL_chr1_cf5f2df8
B_loss_coord : chr1:13203398-167621949; chr1:28001444-28001544; chr1:28001444-28001544
B_loss_AFmax : 0.1676
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr1:28001444-28001544 dbVar;
po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8; chr1:28001444-28001544 gnomAD-SV_v3_DEL_chr1_b57772e5
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 1:28001468-28001756
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 1:28001468-28001756
Repeat_type_right : AluY
Gap_right : .
GC_content_right : 0.515
CHM13,HG03098,NA21309Samples_ID : CHM13,HG03098,NA21309
>2840564>2840562ID : >2840564>2840562
TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGC[...]REF : TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGGGATC
TALT : T
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>2840564>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>2840564>2840563>2840562,>2840564>2840562; LV=0; NS=45; e=28001544; s=100; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
1|0HG03098 : 1|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|1NA21309 : 0|1
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 100
splitAnnotation_mode : split
EYA3Gene_name : EYA3;
LOEUF_bin : 0
GnomAD_pLI : 9.9702e-01
ExAC_pLI : 9.9504e-01
HI : .
TS : .
DDD_HI_percent : 14.1
ACMG : .
ExAC_cnvZ : 0.89274182075407
ExAC_delZ : 1.30145471743479
ExAC_dupZ : 0.465858900596123
ExAC_synZ : 0.834750145935155
ExAC_misZ : 1.92145644982814
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 2140
intron10-intron10Location : intron10-intron10
CytoBand : p35.3
Location2 : CDS
Tx : NM_001282561
Tx_version : 2
Tx_start : 27970343
Tx_end : 28088610
Exon_count : 17
Overlapped_tx_length : 100
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1394
Nearest_SS_type : 3'
Intersect_start : 28001443
Intersect_end : 28001543
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD[...]B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr1_b57772e5; gnomAD-SV_v3_DEL_chr1_cf5f2df8
B_loss_coord : chr1:13203398-167621949; chr1:28001444-28001544; chr1:28001444-28001544
B_loss_AFmax : 0.1676
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG03098,NA21309Samples_ID : CHM13,HG03098,NA21309
>2840564>2840562ID : >2840564>2840562
TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGC[...]REF : TGTAAATATATAAAATTTTTTTTTGCCAGGCGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGGGATC
TALT : T
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>2840564>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>2840564>2840563>2840562,>2840564>2840562; LV=0; NS=45; e=28001544; s=100; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
1|0HG03098 : 1|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|1NA21309 : 0|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 327
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PNMA8C
Closest_right : PNMA8A
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
AP2S1 (morbid/RE=EA_enhancer); FKRP (morbid/R[...]RE_gene : AP2S1 (morbid/RE=EA_enhancer); FKRP (morbid/RE=EA_enhancer); CCDC8 (morbid/RE=EA_enhancer); CALM3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147682; dbVar:nssv15147438; dbVar:nssv15132275; dbVar:nssv15142859
po_P_loss_coord : 19:42509214-46738277; 19:45387390-46831000; 19:45595874-46600026; 19:45900991-47985464
po_P_loss_percent : 0.01; 0.02; 0.03; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.862_duplicate5; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.862_duplicate5; HPRC:pbsv.DEL.5393; dbVar
B_loss_coord : chr19:46452667-46461892; 19:46452844-46453171; chr19:46452844-46453171
B_loss_AFmax : 0.9951
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 19:46452844-46453171 CMRI:0_pbsv.DEL.862_duplicate5; chr19:46452850-46453171 gnomAD-SV_v3_DEL_chr19_aff3dd82
po_B_loss_someG_coord : chr19:46452667-46461892 dbVar; chr19:46452844-46453171 HPRC:pbsv.DEL.5393
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 19:46452719-46452850; 19:46452851-46453157
Repeat_type_left : AluSz6; AluYa5
Gap_left : .
GC_content_left : 0.580
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 19:46452851-46453157; 19:46453158-46453352
Repeat_type_right : AluYa5; AluSz6
Gap_right : .
GC_content_right : 0.455
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>70848050>70848048ID : >70848050>70848048
CAAAAAAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]REF : CAAAAAAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
CALT : C
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>70848050>708480[...]INFO : AC=89; AF=1; AN=89; AT=>70848050>70848049>70848048,>70848050>70848048; LV=0; NS=45; e=46453171; s=327; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 336
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124903243
Closest_right : LINC00433
.Location : .
CytoBand : q31.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161772; dbVar:nssv15161334; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647; dbVar:nssv15172817; dbVar:nssv17957149; dbVar:nssv15161434; dbVar:nssv15161875; dbVar:nssv15161542; dbVar:nssv15136635; dbVar:nssv15120288; dbVar:nssv17969608; dbVar:nssv15149514; dbVar:nssv15140176; dbVar:nssv15134931; dbVar:nssv15158016; dbVar:nssv15148859; dbVar:nssv17969610; dbVar:nssv15136939; dbVar:nssv15120291
po_P_loss_coord : 13:18445863-114327173; 13:40942299-114340331; 13:41883706-91144444; 13:44967524-92738168; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303; 13:56484301-94032361; 13:59000627-88757773; 13:73885259-92829041; 13:76368469-90007867; 13:77061781-92460406; 13:78304803-91283940; 13:78349127-94701844; 13:78795878-114342258; 13:79998364-108067180; 13:81276957-102212324; 13:84005265-92784013; 13:84452425-91808893; 13:86788928-114340331; 13:87420886-114342258; 13:87944480-99866542; 13:88323010-98888644
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.951_duplicate4; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.951_duplicate4; HPRC:pbsv.DEL.4588; dbVar; gnomAD-SV_v3_DEL_chr13_d0414a6d
B_loss_coord : chr13:88350744-88351349; 13:88351009-88351345; chr13:88351009-88351345; chr13:88351009-88351345
B_loss_AFmax : 1.0000
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 13:88351009-88351345 CMRI:0_pbsv.DEL.951_duplicate4; chr13:88351009-88351345 dbVar; chr13:88351010-88351345 dbVar;
po_B_loss_someG_coord : chr13:88350744-88351349 gnomAD-SV_v3_DEL_chr13_d0414a6d; chr13:88351009-88351345 HPRC:pbsv.DEL.4588; 13:88351010-88351345 1000g; chr13:88351028-88351345 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 13:88350990-88351021; 13:88351022-88351346
Repeat_type_left : (CTAATAT)n; AluYa5
Gap_left : .
GC_content_left : 0.315
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 13:88351022-88351346; 13:88351347-88351358
Repeat_type_right : AluYa5; (CTAATAT)n
Gap_right : .
GC_content_right : 0.505
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>55737803>55737805ID : >55737803>55737805
TCTAAATCTAGTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : TCTAAATCTAGTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
TALT : T
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>55737803>557378[...]INFO : AC=89; AF=1; AN=89; AT=>55737803>55737804>55737805,>55737803>55737805; LV=0; NS=45; e=88351345; s=336; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 304
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : RERGL
Closest_right : PIK3C2G
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18326335; dbVar:nssv15133943; dbVar:nssv15773534
po_P_loss_coord : 12:10701289-23950876; 12:15840855-22021652; 12:15988496-27580392
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr12:18070860-18165235; chr12:18116498-18204601; chr12:18116661-18192739; chr12:18157737-18697122
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr12:18116498-18204601 dbVar; chr12:18157737-18697122 dbVar
po_B_loss_someG_coord : chr12:18070860-18165235 dbVar; chr12:18116661-18192739 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:18164284-18164685; 12:18164767-18164835; 12:18164849-18164993
Repeat_type_left : THE1B; THE1B; THE1B
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 12:18164849-18164993
Repeat_type_right : THE1B
Gap_right : .
GC_content_right : 0.375
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>55513213>55513211ID : >55513213>55513211
AGGGAAACTTCTCTTTATAAAGCCATCACATTTTATAGTGAGACT[...]REF : AGGGAAACTTCTCTTTATAAAGCCATCACATTTTATAGTGAGACTTATTCACTGTCACAAGAACGGTTAATAGTGAATGGTAAGGCTTATTCACTGTCACGAGAACAGCATGGGAAAAGCCCGTGATTCAATTACCTCTCACTGGTCCCTCCCATGACACATGGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCATTCAGCCACTCAAACCTCCCATAGTTTCAGGTGGGTAGAAGCCATTTTCTGAAAGATATAAAGTAACATATGTGTTCAACA
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>55513213>555132[...]INFO : AC=89; AF=1; AN=89; AT=>55513213>55513212>55513211,>55513213>55513211; LV=0; NS=45; e=18165074; s=304; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 255
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DCAF12
Closest_right : UBAP1
.Location : .
CytoBand : p13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
UBAP1 (morbid/RE=GH_enhancer); RE_gene : UBAP1 (morbid/RE=GH_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15132770
po_P_loss_coord : 9:33572682-36782015
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681; chr9:34140274-34176014
B_loss_AFmax : 0.2226
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr9:34140274-34176014 dbVar; 9:34159866-34160120 1000g; chr9:34159868-34160444 dbVar
po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761; chr9:34159843-34160120 gnomAD-SV_v3_DEL_chr9_c2af5cf4; chr9:34159866-34160120 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 9:34159525-34159820; 9:34159821-34159909; 9:34159910-34160210
Repeat_type_left : AluSz6; ERV3-16A3_I-int; AluSz
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 9:34159910-34160210; 9:34160211-34160336
Repeat_type_right : AluSz; ERV3-16A3_I-int
Gap_right : .
GC_content_right : 0.490
CHM13,HG02630,HG03453,HG03516,HG03540Samples_ID : CHM13,HG02630,HG03453,HG03516,HG03540
>42373122>42373119ID : >42373122>42373119
TCCTACAGTCAGGCACTTCATCTTTGCCATGGTCAGATGCTGATT[...]REF : TCCTACAGTCAGGCACTTCATCTTTGCCATGGTCAGATGCTGATTATTTTATTTTTTGAGACAGAGCCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGAGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGAATTACATGTACACGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGT
TALT : T
60QUAL : 60
.FILTER : .
AC=4; AF=0.0449438; AN=89; AT=>42373122>[...]INFO : AC=4; AF=0.0449438; AN=89; AT=>42373122>42373121>42373120>42373119,>42373122>42373119; LV=0; NS=45; e=34160122; s=255; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
1|0HG02630 : 1|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 179
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124902005
Closest_right : LOC102723447
.Location : .
CytoBand : q23.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
RAD21 (HI=3/morbid/RE=EA_enhancer); RE_gene : RAD21 (HI=3/morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17970321; dbVar:nssv15151541; dbVar:nssv15151850; dbVar:nssv16208869; dbVar:nssv18330293; dbVar:nssv15133980; dbVar:nssv15161519; dbVar:nssv15120344; dbVar:nssv15162472; dbVar:nssv15122156; dbVar:nssv15136462; dbVar:nssv17976991
po_P_loss_coord : 8:106020660-119729778; 8:109238715-122503546; 8:110125077-118885372; 8:110502563-122180134; 8:111222329-132656133; 8:112528343-120083041; 8:113288455-126716087; 8:113418061-120975305; 8:113495858-128027758; 8:113933306-122621741; 8:114560781-122594102; 8:114650539-116706011
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1464_duplicate4; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1464_duplicate4; HPRC:pbsv.DEL.8219; dbVar; esv2662768; gnomAD-SV_v3_DEL_chr8_bf6dffdd
B_loss_coord : 8:116387478-116387836; 8:116387572-116387751; chr8:116387572-116387751; chr8:116387572-116387758; chr8:116387572-116387758
B_loss_AFmax : 0.6845
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 8:116387572-116387751 CMRI:0_pbsv.DEL.1464_duplicate4; chr8:116387572-116387758 dbVar;
po_B_loss_someG_coord : 8:116387478-116387836 esv2662768; chr8:116387572-116387751 HPRC:pbsv.DEL.8219; chr8:116387572-116387758 gnomAD-SV_v3_DEL_chr8_bf6dffdd
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 8:116387384-116387572; 8:116387573-116387748
Repeat_type_left : THE1C; L1P2
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 8:116387573-116387748; 8:116387749-116387939
Repeat_type_right : L1P2; THE1C
Gap_right : .
GC_content_right : 0.480
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>40258312>40258309ID : >40258312>40258309
CTTTTTTAAAGAATGTTGAATATTGGCCCCTACTCTCTTCTGTCT[...]REF : CTTTTTTAAAGAATGTTGAATATTGGCCCCTACTCTCTTCTGTCTTGTAGAGTTTCTGCTGAGAGATCTGCTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCCGACATTTCTCTCTGGCTACCGTTAACATTTTTTCCTTCATTTCAACTTTGGTCAATCTGACTATTACGTGTCTTG
CAALT : CA
60QUAL : 60
.FILTER : .
AC=66; AF=0.741573; AN=89; AT=>40258312>[...]INFO : AC=66; AF=0.741573; AN=89; AT=>40258312>40258311>40258309,>40258312>40258310>40258309; CONFLICT=HG02886; LV=0; NS=45; e=116387752; s=180; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|1HG00621 : 1|1
0|1HG00673 : 0|1
0|1HG00733 : 0|1
0|1HG00735 : 0|1
0|0HG00741 : 0|0
1|0HG01071 : 1|0
1|0HG01106 : 1|0
1|1HG01109 : 1|1
1|1HG01123 : 1|1
0|1HG01175 : 0|1
0|1HG01243 : 0|1
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|1HG01891 : 1|1
0|1HG01928 : 0|1
1|0HG01952 : 1|0
0|1HG01978 : 0|1
1|1HG02055 : 1|1
1|0HG02080 : 1|0
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|0HG02148 : 1|0
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
0|0HG03492 : 0|0
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 192
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : ZBTB9
Closest_right : LOC107986537
.Location : .
CytoBand : p21.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr6_f0914d13B_loss_source : gnomAD-SV_v3_DEL_chr6_f0914d13
B_loss_coord : chr6:31328328-33520997
B_loss_AFmax : 0.1349
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 6:33507955-33508147 CMRI:12_pbsv.DEL.711
po_B_loss_someG_coord : chr6:31328328-33520997 gnomAD-SV_v3_DEL_chr6_f0914d13
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:33507622-33507915; 6:33507916-33507965; 6:33507966-33508107
Repeat_type_left : AluSx1; MER112; AluSx
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:33507966-33508107; 6:33508112-33508158; 6:33508160-33508459
Repeat_type_right : AluSx; MER112; AluSq2
Gap_right : .
GC_content_right : 0.535
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>30890223>30890225ID : >30890223>30890225
CCAGTTAGTTTTTGTATTTTTAGGAGAGATGGGTTTTCGCCATGT[...]REF : CCAGTTAGTTTTTGTATTTTTAGGAGAGATGGGTTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCCCAGGTGATCTGCCTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGGGCCCTGTCTAAAATATATTTCTTACTGTGGGTCCTAGTCAAAAAAGTTTGAAAGCAGGCC
CALT : C
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>30890223>308902[...]INFO : AC=89; AF=1; AN=89; AT=>30890223>30890224>30890225,>30890223>30890225; LV=0; NS=45; e=33508163; s=192; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 523
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PRDM6
Closest_right : CEP120
.Location : .
CytoBand : q23.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15143209; nssv17976344; dbVar:nssv15138054; dbVar:nssv15139660; dbVar:nssv17970043; dbVar:nssv15146464; dbVar:nssv15138803; dbVar:nssv15136701; dbVar:nssv15133621; dbVar:nssv18329255; dbVar:nssv15132819; dbVar:nssv15119917; dbVar:nssv15133406; dbVar:nssv15121078; dbVar:nssv15126271
po_P_loss_coord : 5:17628633-177148719; 5:87104184-154620440; 5:90374607-128076423; 5:91411709-131319563; 5:101272215-126565043; 5:106619589-156124387; 5:108308464-125777797; 5:110687443-130103838; 5:111463017-127193038; 5:113221695-128770606; 5:114707562-126507744; 5:116677123-132686163; 5:120695676-124525372; 5:120739631-126823984; 5:123072609-130670586
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1548_duplicate3; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1548_duplicate3; HPRC:pbsv.DEL.8833; IMH
B_loss_coord : 5:123236708-123251656; 5:123236804-123237327; chr5:123236804-123237327
B_loss_AFmax : 0.4402
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 5:123236804-123237327 CMRI:0_pbsv.DEL.1548_duplicate3;
po_B_loss_someG_coord : 5:123236708-123251656 IMH; chr5:123236804-123237327 HPRC:pbsv.DEL.8833
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 5:123236612-123242616
Repeat_type_left : L1PA2
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 5:123236612-123242616
Repeat_type_right : L1PA2
Gap_right : .
GC_content_right : 0.385
CHM13,HG00741,HG01123,HG01258,HG01361,HG01891[...]Samples_ID : CHM13,HG00741,HG01123,HG01258,HG01361,HG01891,HG02055,HG02109,HG02145,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>26238626>26238624ID : >26238626>26238624
CTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG[...]REF : CTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGTTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCAT
CALT : C
60QUAL : 60
.FILTER : .
AC=37; AF=0.41573; AN=89; AT=>26238626>[...]INFO : AC=37; AF=0.41573; AN=89; AT=>26238626>26238625>26238624,>26238626>26238624; LV=1; NS=45; PS=>25662516>25796736; e=123237327; s=523; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
1|0HG01123 : 1|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|1HG02055 : 0|1
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
1|1HG02257 : 1|1
0|1HG02486 : 0|1
0|1HG02559 : 0|1
1|1HG02572 : 1|1
1|0HG02622 : 1|0
1|1HG02630 : 1|1
0|1HG02717 : 0|1
1|0HG02723 : 1|0
1|1HG02818 : 1|1
0|1HG02886 : 0|1
0|0HG03098 : 0|0
1|1HG03453 : 1|1
1|0HG03486 : 1|0
1|0HG03492 : 1|0
1|1HG03516 : 1|1
1|1HG03540 : 1|1
0|1HG03579 : 0|1
0|1NA18906 : 0|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 169
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105379063
Closest_right : NBPF22P
.Location : .
CytoBand : q14.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151179; dbVar:nssv17970035; dbVar:nssv15776629; dbVar:nssv15138006; dbVar:nssv15127576; dbVar:nssv15132648
po_P_loss_coord : 5:17628633-177148719; 5:82890133-90814637; 5:84201742-89120537; 5:84603581-111435081; 5:85749808-90006821; 5:85876481-88958682
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1170; HPRC:pbsv.DEL.6767; dbV[...]B_loss_source : CMRI:0_pbsv.DEL.1170; HPRC:pbsv.DEL.6767; dbVar; gnomAD-SV_v3_DEL_chr5_36843d0f
B_loss_coord : chr5:86087768-86149235; chr5:86109120-86109692; chr5:86109315-86109692; 5:86109523-86109692; chr5:86109523-86109692; chr5:86109523-86109692
B_loss_AFmax : 0.4263
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr5:86109120-86109692 gnomAD-SV_v3_DEL_chr5_36843d0f; 5:86109523-86109692 CMRI:0_pbsv.DEL.1170; chr5:86109523-86109692 dbVar; 5:86109524-86109692 IMH; 5:86109524-86109692 esv2669543
po_B_loss_someG_coord : chr5:86087768-86149235 dbVar; chr5:86109315-86109692 dbVar; chr5:86109523-86109692 HPRC:pbsv.DEL.6767; 5:86109524-86109692 1000g; chr5:86109524-86109692 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 5:86108263-86109849
Repeat_type_left : THE1B-int
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 5:86108263-86109849
Repeat_type_right : THE1B-int
Gap_right : .
GC_content_right : 0.440
CHM13,HG00741,HG01106,HG01175,HG01258,HG01891[...]Samples_ID : CHM13,HG00741,HG01106,HG01175,HG01258,HG01891,HG02109,HG02145,HG02257,HG02572,HG02622,HG02723,HG02886,HG03486,HG03492,NA21309
>25610502>25610504ID : >25610502>25610504
AAGGAGATCATTTTGGAGCTTTAAGATTTGACTGCCCCGTTGGAT[...]REF : AAGGAGATCATTTTGGAGCTTTAAGATTTGACTGCCCCGTTGGATTGTGGACTTGCATGGAGCCTGCAGCCCCTTTATTTTGGCCAATTTCTCCCATTTGAAATGGCTGTATTTACCCAATGCCTGTACCCCCATTGTATCTAGGAAGTAACTTACGTGCTTTTGATTTT
AALT : A
60QUAL : 60
.FILTER : .
AC=16; AF=0.179775; AN=89; AT=>25610502>[...]INFO : AC=16; AF=0.179775; AN=89; AT=>25610502>25610503>25610504,>25610502>25610504; LV=0; NS=45; e=86109692; s=169; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|1HG01106 : 0|1
0|0HG01109 : 0|0
0|0HG01123 : 0|0
1|1HG01175 : 1|1
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|1HG02109 : 0|1
1|0HG02145 : 1|0
0|0HG02148 : 0|0
0|1HG02257 : 0|1
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|1HG02572 : 0|1
0|1HG02622 : 0|1
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
1|0HG03486 : 1|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
1|0NA21309 : 1|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 137
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105377558
Closest_right : AGA
.Location : .
CytoBand : q34.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18326362; dbVar:nssv15152113; dbVar:nssv15132960; dbVar:nssv16207997; dbVar:nssv15137721; dbVar:nssv15771866; dbVar:nssv15137165; dbVar:nssv15138188; dbVar:nssv18326350; dbVar:nssv15138242; dbVar:nssv16255838; dbVar:nssv15137063; dbVar:nssv15153643; dbVar:nssv15138081; dbVar:nssv15755195; dbVar:nssv15605865; dbVar:nssv15139244; dbVar:nssv15134400; dbVar:nssv15121231; dbVar:nssv15134401; dbVar:nssv15139216; dbVar:nssv15132053; dbVar:nssv15605960; dbVar:nssv15133203; dbVar:nssv15121771; dbVar:nssv15122775; dbVar:nssv17976754; dbVar:nssv15119905; dbVar:nssv15151171; dbVar:nssv15152882; dbVar:nssv15132961; dbVar:nssv15123452; nssv15151652; dbVar:nssv15133415; dbVar:nssv15153646; dbVar:nssv15772005; dbVar:nssv15139934; dbVar:nssv15166217; dbVar:nssv15755207; dbVar:nssv15124055
po_P_loss_coord : 4:158253332-190036318; 4:161284559-181408730; 4:164039531-189982708; 4:164089310-190036318; 4:165281037-190018185; 4:165702739-190036318; 4:166317588-190095391; 4:166630208-179820960; 4:166858738-190036318; 4:167373717-190036318; 4:168187208-183504383; 4:168970401-186936738; 4:169047864-190036318; 4:169873509-190018185; 4:170395823-179711352; 4:170742470-189510275; 4:170899125-190036318; 4:171507705-189869726; 4:171851296-178772816; 4:172356989-189975519; 4:172501375-190095332; 4:173599912-188624331; 4:173689342-189506391; 4:173754676-189343295; 4:173854561-189548183; 4:173989030-189975519; 4:174022982-190036318; 4:174080893-183195538; 4:174150184-188259055; 4:174788038-190036318; 4:175013056-181652375; 4:175349736-189792496; 4:175483684-189975519; 4:175572096-190036318; 4:176268756-189895111; 4:176756633-189621964; 4:177061515-183008428; 4:177253838-178021531; 4:177322472-189792496
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.02; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr4_aa7116c9B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9
B_loss_coord : chr4:73564711-189048534
B_loss_AFmax : 0.2162
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:177414710-177414977; 4:177414988-177415103
Repeat_type_left : AluJb; FLAM_A
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:177414710-177414977; 4:177414988-177415103; 4:177415104-177417378
Repeat_type_right : AluJb; FLAM_A; Tigger1
Gap_right : .
GC_content_right : 0.395
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>22160757>22160755ID : >22160757>22160755
GCCTAAGCAACTGAGTAAGACCCCCATCTCTACAAAAATAAATAA[...]REF : GCCTAAGCAACTGAGTAAGACCCCCATCTCTACAAAAATAAATAATGATTAACTGGGTGTGGTGGTGGGCACCTGCAGTCTTAGCTACTCAGGAGACTGAGGCGGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAG
GALT : G
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>22160757>221607[...]INFO : AC=89; AF=1; AN=89; AT=>22160757>22160756>22160755,>22160757>22160755; LV=0; NS=45; e=177415073; s=137; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 167
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02477
Closest_right : LOC105377513
.Location : .
CytoBand : q32.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15142869; dbVar:nssv15139391; dbVar:nssv16867396; dbVar:nssv18326362
po_P_loss_coord : 4:152282280-161991207; 4:155162983-170959553; 4:156850201-171575127; 4:158253332-190036318
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.1956_duplicate2; HPRC:pbsv.DE[...]B_loss_source : CMRI:0_pbsv.DEL.1956_duplicate2; HPRC:pbsv.DEL.11084; dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_d05be2be; gnomAD-SV_v3_DEL_chr4_e8bd9f62
B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:160830877-160831446; chr4:160830946-160831446; 4:160831279-160831446; chr4:160831279-160831446
B_loss_AFmax : 0.2162
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62; chr4:160830946-160831446 gnomAD-SV_v3_DEL_chr4_d05be2be; chr4:160831279-160831446 HPRC:pbsv.DEL.11084; 4:160831280-160831446 IMH; 4:160831280-160831446 esv2666178
po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:160830877-160831446 dbVar; 4:160831279-160831446 CMRI:0_pbsv.DEL.1956_duplicate2; 4:160831280-160831446 1000g; chr4:160831280-160831446 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:160830870-160831461
Repeat_type_left : LTR77
Gap_left : .
GC_content_left : 0.390
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:160830870-160831461
Repeat_type_right : LTR77
Gap_right : .
GC_content_right : 0.420
CHM13,HG00733,HG00735,HG01109,HG01258,HG02055[...]Samples_ID : CHM13,HG00733,HG00735,HG01109,HG01258,HG02055,HG02145,HG02622,HG02818,HG03486,HG03516
>21618594>21618592ID : >21618594>21618592
TGCACCTGTGCCTAAGTTGGGACAGTCCCTTCTGACCAAACATTC[...]REF : TGCACCTGTGCCTAAGTTGGGACAGTCCCTTCTGACCAAACATTCTAGCATAAGAGGAAGTTCTTAATCACATTTCTTCCCACTACCTACAGGGTAGTGCAGGTATGGTCCTGCGGTTGTTTTTCCTCTCCTGAGATCCTCCCTCTCTATCTGCCAAGTTGGCTTCTA
TALT : T
60QUAL : 60
.FILTER : .
AC=11; AF=0.123596; AN=89; AT=>21618594>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>21618594>21618593>21618592,>21618594>21618592; CONFLICT=HG01891; LV=0; NS=45; e=160831446; s=167; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|0HG00733 : 1|0
1|0HG00735 : 1|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|0HG02055 : 1|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
1|0HG02622 : 1|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|1HG02818 : 0|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
1|1HG03486 : 1|1
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 160
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1269A
Closest_right : LOC105377262
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr4_48ff321aB_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a
B_loss_coord : chr4:65506280-67062809; chr4:66653598-66773445
B_loss_AFmax : 0.0641
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:66653598-66773445 dbVar; chr4:66711856-66712016 HPRC:pbsv.DEL.5762
po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a; 4:66711856-66712016 CMRI:4_pbsv.DEL.1577
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:66711221-66712976
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.465
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:66711221-66712976
Repeat_type_right : LTR12C
Gap_right : .
GC_content_right : 0.470
CHM13,HG02109,HG02145,HG02486,HG02559,HG02622[...]Samples_ID : CHM13,HG02109,HG02145,HG02486,HG02559,HG02622,HG02630,HG02717,HG02723,HG03098,HG03453,HG03540,HG03579,NA20129
>19732332>19732334ID : >19732332>19732334
AGCTAGATACAAAGTGCCAATTGGTGTATTTACAATCCCTGAGCT[...]REF : AGCTAGATACAAAGTGCCAATTGGTGTATTTACAATCCCTGAGCTAGACATAAAGGTTCTCTGAGGCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGA
AALT : A
60QUAL : 60
.FILTER : .
AC=15; AF=0.168539; AN=89; AT=>19732332>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>19732332>19732333>19732334,>19732332>19732334; LV=0; NS=45; e=66712097; s=160; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
1|1HG02145 : 1|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|1HG02486 : 0|1
1|1HG02559 : 1|1
0|0HG02572 : 0|0
1|0HG02622 : 1|0
0|1HG02630 : 0|1
0|1HG02717 : 0|1
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|1HG03098 : 0|1
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|1HG03540 : 0|1
0|1HG03579 : 0|1
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 134
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124900851
Closest_right : TECRL
.Location : .
CytoBand : q13.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:13925; dbVarB_loss_source : DDD:13925; dbVar
B_loss_coord : chr4:63452671-64357231; 4:64273482-64279980
B_loss_AFmax : 0.0107
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 4:64273482-64279980 DDD:13925;
po_B_loss_someG_coord : chr4:63452671-64357231 dbVar; 4:64273977-64274111 CMRI:4_pbsv.DEL.1522_duplicate3
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:64273860-64274163; 4:64274167-64274298
Repeat_type_left : AluSp; AluSp
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:64273860-64274163; 4:64274167-64274298
Repeat_type_right : AluSp; AluSp
Gap_right : .
GC_content_right : 0.550
CHM13,HG02145,HG02486,HG02886,HG03579Samples_ID : CHM13,HG02145,HG02486,HG02886,HG03579
>19663400>19663402ID : >19663400>19663402
TTGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGC[...]REF : TTGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGCATTTCTCCATGTT
TALT : T
60QUAL : 60
.FILTER : .
AC=4; AF=0.0449438; AN=89; AT=>19663400>[...]INFO : AC=4; AF=0.0449438; AN=89; AT=>19663400>19663401>19663402,>19663400>19663402; LV=0; NS=45; e=64274203; s=134; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
1|0HG03579 : 1|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 111
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02505
Closest_right : LINC02616
.Location : .
CytoBand : p14
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18792592; dbVar:nssv17969937
po_P_loss_coord : 4:11399083-38137335; 4:19891228-37323506
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:6_pbsv.DEL.996_duplicate2; HPRC:pbsv.DEL.3645B_loss_source : CMRI:6_pbsv.DEL.996_duplicate2; HPRC:pbsv.DEL.3645
B_loss_coord : 4:36650943-36651054; chr4:36650943-36651054
B_loss_AFmax : 0.2809
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:36650943-36651054 HPRC:pbsv.DEL.3645; chr4:36650944-36651054 dbVar;
po_B_loss_someG_coord : 4:36650943-36651054 CMRI:6_pbsv.DEL.996_duplicate2; 4:36650944-36651054 1000g; chr4:36650944-36651054 gnomAD-SV_v3_DEL_chr4_bcd3e7da
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:36650960-36651349
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:36650960-36651349
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.335
CHM13,HG00438,HG00621,HG00733,HG00741,HG01071[...]Samples_ID : CHM13,HG00438,HG00621,HG00733,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01891,HG01928,HG02486,HG03453,HG03540,NA18906,NA20129
>18963811>18963814ID : >18963811>18963814
TAATATCTCCTCATTTGTTTATTTATTCAATAGTATTTATTTGGA[...]REF : TAATATCTCCTCATTTGTTTATTTATTCAATAGTATTTATTTGGAACATAGTAGCTGCCAGGCACTCTGCTAGCAAGTGAAATGCAATGGTTAACAACATATGTAGTTTCCC
TALT : T
60QUAL : 60
.FILTER : .
AC=20; AF=0.224719; AN=89; AT=>18963811>[...]INFO : AC=20; AF=0.224719; AN=89; AT=>18963811>18963812>18963813>18963814,>18963811>18963814; LV=0; NS=45; e=36651054; s=111; rC=LINE/misc
GTFORMAT : GT
0CHM13 : 0
0|1HG00438 : 0|1
0|1HG00621 : 0|1
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
1|1HG00741 : 1|1
1|0HG01071 : 1|0
1|0HG01106 : 1|0
1|0HG01109 : 1|0
0|1HG01123 : 0|1
1|1HG01175 : 1|1
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|1HG01358 : 0|1
0|0HG01361 : 0|0
1|0HG01891 : 1|0
0|1HG01928 : 0|1
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|1HG02486 : 0|1
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
1|0NA18906 : 1|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 436
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02497
Closest_right : LOC105374564
.Location : .
CytoBand : p15.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151369; dbVar:nssv18792592; dbVar:nssv15133724; dbVar:nssv17969937; dbVar:nssv17969939; dbVar:nssv16255589
po_P_loss_coord : 4:4163608-33323159; 4:11399083-38137335; 4:16925023-32113076; 4:19891228-37323506; 4:23788509-32300986; 4:28605525-32015844
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.DEL.575_duplicate1; HPRC:pbsv.DEL[...]B_loss_source : CMRI:0_pbsv.DEL.575_duplicate1; HPRC:pbsv.DEL.3307; dbVar; gnomAD-SV_v3_DEL_chr4_6939d627; gnomAD-SV_v3_DEL_chr4_73359b76
B_loss_coord : chr4:22150396-36380550; chr4:31490930-31491680; 4:31491241-31491677; chr4:31491241-31491677; chr4:31491241-31491677
B_loss_AFmax : 0.8944
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:31490930-31491680 gnomAD-SV_v3_DEL_chr4_73359b76; chr4:31491241-31491677 HPRC:pbsv.DEL.3307; 4:31491242-31491677 esv2670628;
po_B_loss_someG_coord : chr4:22150396-36380550 gnomAD-SV_v3_DEL_chr4_6939d627; 4:31491241-31491677 CMRI:0_pbsv.DEL.575_duplicate1; chr4:31491241-31491677 dbVar; chr4:31491245-31491677 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:31491242-31491682
Repeat_type_left : L1P1
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:31491242-31491682; 4:31491701-31491936
Repeat_type_right : L1P1; Charlie7
Gap_right : .
GC_content_right : 0.390
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01952,HG02055,HG02080,HG02109,HG02145,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>18825686>18825688ID : >18825686>18825688
ATTTCGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTA[...]REF : ATTTCGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGCACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCT
AALT : A
60QUAL : 60
.FILTER : .
AC=72; AF=0.808989; AN=89; AT=>18825686>[...]INFO : AC=72; AF=0.808989; AN=89; AT=>18825686>18825687>18825688,>18825686>18825688; LV=0; NS=45; e=31491677; s=436; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|1HG00438 : 0|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|0HG00733 : 1|0
1|1HG00735 : 1|1
1|1HG00741 : 1|1
0|1HG01071 : 0|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
0|0HG01123 : 0|0
0|1HG01175 : 0|1
1|1HG01243 : 1|1
1|0HG01258 : 1|0
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
0|0HG01928 : 0|0
0|1HG01952 : 0|1
0|0HG01978 : 0|0
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
0|0HG02148 : 0|0
1|1HG02257 : 1|1
1|1HG02486 : 1|1
0|1HG02559 : 0|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
0|1HG03486 : 0|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|0NA20129 : 1|0
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 343
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124905439
Closest_right : LOC100507443
.Location : .
CytoBand : q33.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124851; dbVar:nssv17976941; dbVar:nssv18330068; dbVar:nssv15145974; dbVar:nssv15148999; dbVar:nssv15148911; dbVar:nssv17969803; dbVar:nssv16253926; dbVar:nssv15137579; dbVar:nssv15136737
po_P_loss_coord : 2:50659295-242160331; 2:184832933-212137349; 2:189045179-208603658; 2:192938827-215705052; 2:199937274-210031924; 2:199946495-209985195; 2:199986357-208189543; 2:203580897-211716063; 2:204906844-210031449; 2:207058887-211245603
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DEL_chr2_d8522047B_loss_source : gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659
B_loss_AFmax : 0.0146
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 2:208094383-208094726 CMRI:0_pbsv.DEL.2479_duplicate1; chr2:208094383-208094726 dbVar; chr2:208094384-208094726 dbVar;
po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; chr2:208094383-208094726 HPRC:pbsv.DEL.13765; 2:208094384-208094726 1000g; chr2:208094399-208094726 gnomAD-SV_v3_DEL_chr2_1c4a5e65
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:208094085-208094383; 2:208094384-208094394; 2:208094395-208094729
Repeat_type_left : AluY; AluJr4; AluYb8
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:208094395-208094729; 2:208094730-208094868
Repeat_type_right : AluYb8; AluJr4
Gap_right : .
GC_content_right : 0.550
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>11515909>11515911ID : >11515909>11515911
AACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]REF : AACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTTA
AALT : A
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>11515909>115159[...]INFO : AC=89; AF=1; AN=89; AT=>11515909>11515910>11515911,>11515909>11515911; LV=0; NS=45; e=208094735; s=343; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 136
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107985959
Closest_right : LOC105373734
.Location : .
CytoBand : q24.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15152071; dbVar:nssv17976622; dbVar:nssv16296942; dbVar:nssv15128015; dbVar:nssv15134479; dbVar:nssv15131792; dbVar:nssv15153055; dbVar:nssv15132374; dbVar:nssv15151176; dbVar:nssv15130596; dbVar:nssv15775914; dbVar:nssv8639751
po_P_loss_coord : 2:50659295-242160331; 2:157114263-168414165; 2:159491132-173211123; 2:162221546-181254890; 2:163652983-169424906; 2:163965383-182195062; 2:164066039-172097886; 2:164317111-168922816; 2:164850118-175559190; 2:165518446-168814693; 2:166427539-174521682; 2:166473077-191891647; 2:167140209-169815376
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:8_pbsv.DEL.2605; gnomAD-SV_v3_DEL_chr2_d[...]B_loss_source : CMRI:8_pbsv.DEL.2605; gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659; 2:168334178-168334314
B_loss_AFmax : 0.0279
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 2:168334178-168334314 CMRI:8_pbsv.DEL.2605; chr2:168334194-168334314 gnomAD-SV_v3_DEL_chr2_dce0d9fc
po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; chr2:168334194-168334296 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:168334052-168334349
Repeat_type_left : AluSx
Gap_left : .
GC_content_left : 0.510
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:168334052-168334349; 2:168334350-168334592
Repeat_type_right : AluSx; L1MA4A
Gap_right : .
GC_content_right : 0.445
CHM13,HG00741,HG02080Samples_ID : CHM13,HG00741,HG02080
>10666648>10666650ID : >10666648>10666650
AGCTGGGATTACAGGTGCGTGCCACTACACTCAGCTAATTTTTTG[...]REF : AGCTGGGATTACAGGTGCGTGCCACTACACTCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGGTTTCACCATGTTGGCCTGGCTGTTCTCGAACTCCTGACATCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT
AALT : A
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>10666648>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>10666648>10666649>10666650,>10666648>10666650; LV=0; NS=45; e=168334314; s=136; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
1|0HG02080 : 1|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI and OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 176
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904732
Closest_right : LOC107984966
.Location : .
CytoBand : p31.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16296937; dbVar:nssv15146568; dbVar:nssv15147256; dbVar:nssv15146712; dbVar:nssv15774159; dbVar:nssv15147194; dbVar:nssv15146618; dbVar:nssv15146185; dbVar:nssv15151300; dbVar:nssv18790561; dbVar:nssv15143555
po_P_loss_coord : 1:53210036-66179280; 1:57350575-71325924; 1:58819606-69107108; 1:58819606-86098611; 1:59456960-71592970; 1:59632501-76730877; 1:59760857-71578052; 1:60473801-70944955; 1:60885353-79118248; 1:61082793-67396089; 1:63855594-87687986
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DEL_chr1_cf5f2df8B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr1_cf5f2df8
B_loss_coord : chr1:13203398-167621949; chr1:64386395-64441436
B_loss_AFmax : 0.1676
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr1:64386395-64441436 dbVar;
po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8; chr1:64415645-64415821 HPRC:pbsv.DEL.5818
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 1:64415282-64416345
Repeat_type_left : SVA_D
Gap_left : .
GC_content_left : 0.790
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 1:64415282-64416345
Repeat_type_right : SVA_D
Gap_right : .
GC_content_right : 0.790
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>2419159>2419157ID : >2419159>2419157
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCC[...]REF : CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTAAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC
CALT : C
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>2419159>2419158[...]INFO : AC=89; AF=1; AN=89; AT=>2419159>2419158>2419157,>2419159>2419157; LV=0; NS=45; e=64415869; s=176; rC=Retroposon/SVA
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 280
Gene_count : 2
fullAnnotation_mode : full
PAXBP1-AS1; PAXBP1; [...2genes]Gene_name : PAXBP1-AS1; PAXBP1;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9997e-01
HI : .
TS : .
DDD_HI_percent : 28.33
ExAC_cnvZ : 0.0902107819488936
ExAC_delZ : 0.715741625332419
ExAC_dupZ : -0.279836001852529
ExAC_synZ : 0.978514752153031
ExAC_misZ : 2.86811944053941
Closest_left : LOC124905011
Closest_right : LOC124905010
.Location : .
CytoBand : q22.11
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15147949; dbVar:nssv15145786; nssv15145787; nssv15145788; dbVar:nssv15147265; dbVar:nssv15147268; dbVar:nssv15146446; dbVar:nssv15147289; dbVar:nssv15145792; dbVar:nssv15147273; dbVar:nssv15145950; nssv15147280; dbVar:nssv15145650; nssv15145793; nssv15145794; nssv15146803; dbVar:nssv15146648; nssv15147989; dbVar:nssv15145903; nssv15147362; nssv15147367; nssv15148853; dbVar:nssv15146752; nssv15148994; nssv15149002; dbVar:nssv15145977; dbVar:nssv17955538; dbVar:nssv15163276; dbVar:nssv15161153; dbVar:nssv15161150; nssv15162844; dbVar:nssv17977065; dbVar:nssv16254725; dbVar:nssv15149644; dbVar:nssv15777259; nssv17956911; nssv17969259; dbVar:nssv15150236; dbVar:nssv17969260; dbVar:nssv17969261; dbVar:nssv15147703; dbVar:nssv15129056; dbVar:nssv15125441; dbVar:nssv17969265; dbVar:nssv15163299; dbVar:nssv15155613
po_P_gain_coord : 21:7749533-42971047; 21:7749533-46623792; 21:7749533-46649831; 21:7749533-46653084; 21:7749533-46653090; 21:7749533-46660999; 21:7749533-46661140; 21:7749533-46664250; 21:7749533-46670346; 21:7749533-46670405; 21:7749533-46670440; 21:7749533-46671060; 21:7749533-46677460; 21:7749533-46698247; 21:8522362-46699983; 21:12965810-46670717; 21:12965810-46680243; 21:12965810-46697984; 21:13048295-46661014; 21:13256743-46670405; 21:13399450-46660955; 21:13634137-46677460; 21:13634138-46677460; 21:13668889-46677460; 21:13913521-46677460; 21:14038381-46670405; 21:14158050-46699983; 21:14158109-46699983; 21:28439713-37910551; 21:28842551-33524655; 21:32607904-41171060
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136031; dbVar:nssv15148957; dbVar:nssv15146956; dbVar:nssv15137471; dbVar:nssv16209005; dbVar:nssv15124432; dbVar:nssv15605918; dbVar:nssv16215100; dbVar:nssv17976289
po_P_loss_coord : 21:7749533-37653653; 21:7817159-46670440; 21:14166335-46661014; 21:28508148-34690032; 21:30339599-33260168; 21:31206325-33687787; 21:31217588-33987634; 21:31832753-34666723; 21:32213459-34373118
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr21:32675352-32751209
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr21:32675352-32751209 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 21:32738491-32738560
Repeat_type_left : MER3
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 21:32738491-32738560
Repeat_type_right : MER3
Gap_right : .
GC_content_right : 0.280
CHM13Samples_ID : CHM13
>75660143>75660145ID : >75660143>75660145
AREF : A
AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG[...]ALT : AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>75660143>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>75660143>75660145,>75660143>75660144>75660145; LV=0; NS=45; e=32738403; s=280; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 280
splitAnnotation_mode : split
PAXBP1Gene_name : PAXBP1;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9997e-01
HI : .
TS : .
DDD_HI_percent : 28.33
ACMG : .
ExAC_cnvZ : 0.0902107819488936
ExAC_delZ : 0.715741625332419
ExAC_dupZ : -0.279836001852529
ExAC_synZ : 0.978514752153031
ExAC_misZ : 2.86811944053941
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 94104
intron15-intron15Location : intron15-intron15
CytoBand : q22.11
Location2 : CDS
Tx : NM_016631
Tx_version : 4
Tx_start : 32733898
Tx_end : 32771755
Exon_count : 18
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 83
Nearest_SS_type : 3'
Intersect_start : 32738402
Intersect_end : 32738403
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr21:32675352-32751209
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13Samples_ID : CHM13
>75660143>75660145ID : >75660143>75660145
AREF : A
AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG[...]ALT : AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>75660143>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>75660143>75660145,>75660143>75660144>75660145; LV=0; NS=45; e=32738403; s=280; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 280
splitAnnotation_mode : split
PAXBP1-AS1Gene_name : PAXBP1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506215
intron3-intron3Location : intron3-intron3
CytoBand : q22.11
Location2 : UTR
Tx : NR_038879
Tx_version : 1
Tx_start : 32728113
Tx_end : 32743122
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 61
Nearest_SS_type : 5'
Intersect_start : 32738402
Intersect_end : 32738403
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr21:32675352-32751209
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13Samples_ID : CHM13
>75660143>75660145ID : >75660143>75660145
AREF : A
AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG[...]ALT : AAATACAGCAGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>75660143>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>75660143>75660145,>75660143>75660144>75660145; LV=0; NS=45; e=32738403; s=280; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 309
Gene_count : 2
fullAnnotation_mode : full
TMTC1; LOC105369714; [...2genes]Gene_name : TMTC1; LOC105369714;
LOEUF_bin : 3
GnomAD_pLI : 1.3290e-09
ExAC_pLI : 3.0649e-07
HI : .
TS : .
DDD_HI_percent : 43.75
ExAC_cnvZ : 0.699442783758243
ExAC_delZ : 0.571504801232638
ExAC_dupZ : 0.596669492959968
ExAC_synZ : -0.496348186379445
ExAC_misZ : 0.506606646315171
Closest_left : OVCH1
Closest_right : LOC124902909
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15129039; dbVar:nssv15161620; dbVar:nssv15149123; nssv15149133; dbVar:nssv15147501; dbVar:nssv15772258; dbVar:nssv15146010; nssv15154626; nssv15155403; nssv17969493; dbVar:nssv15152338; dbVar:nssv17969494; dbVar:nssv15161414; nssv15161422; dbVar:nssv18792642; dbVar:nssv15146543; dbVar:nssv15147863; dbVar:nssv15171852; dbVar:nssv15171851; dbVar:nssv15146700; dbVar:nssv15161798; dbVar:nssv15145922; dbVar:nssv16208328; dbVar:nssv15146481; dbVar:nssv15150645; dbVar:nssv15171855; dbVar:nssv15150719; dbVar:nssv15150741
po_P_gain_coord : 12:43335-37470675; 12:45741-133265309; 12:45741-34025864; 12:54428-34608071; 12:64621-34343693; 12:64621-34682902; 12:64621-37475305; 12:64621-37475499; 12:64622-133201316; 12:66882-34026917; 12:77188-34380176; 12:80413-34603215; 12:82454-133201059; 12:82454-31580110; 12:121256-34603274; 12:121272-133196807; 12:121272-34603261; 12:165511-37475499; 12:212977-33926913; 12:456204-34682902; 12:512055-133202532; 12:28970468-40562384; 12:29426098-34682902
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15131918
po_P_loss_coord : 12:25263834-34064528
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.330
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.335
CHM13,HG01978Samples_ID : CHM13,HG01978
>52932807>52932809ID : >52932807>52932809
TREF : T
TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]ALT : TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>52932807>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>52932807>52932809,>52932807>52932808>52932809; LV=0; NS=45; e=29539309; s=309; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 309
splitAnnotation_mode : split
TMTC1Gene_name : TMTC1;
LOEUF_bin : 3
GnomAD_pLI : 1.3290e-09
ExAC_pLI : 3.0649e-07
HI : .
TS : .
DDD_HI_percent : 43.75
ACMG : .
ExAC_cnvZ : 0.699442783758243
ExAC_delZ : 0.571504801232638
ExAC_dupZ : 0.596669492959968
ExAC_synZ : -0.496348186379445
ExAC_misZ : 0.506606646315171
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83857
intron8-intron8Location : intron8-intron8
CytoBand : p11.22
Location2 : CDS
Tx : XM_017020007
Tx_version : 3
Tx_start : 29500812
Tx_end : 29661402
Exon_count : 16
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2991
Nearest_SS_type : 3'
Intersect_start : 29539308
Intersect_end : 29539309
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01978Samples_ID : CHM13,HG01978
>52932807>52932809ID : >52932807>52932809
TREF : T
TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]ALT : TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>52932807>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>52932807>52932809,>52932807>52932808>52932809; LV=0; NS=45; e=29539309; s=309; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 309
splitAnnotation_mode : split
LOC105369714Gene_name : LOC105369714;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron5-intron5Location : intron5-intron5
CytoBand : p11.22
Location2 : UTR
Tx : XR_007063258
Tx_version : 1
Tx_start : 29519730
Tx_end : 29556670
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5781
Nearest_SS_type : 5'
Intersect_start : 29539308
Intersect_end : 29539309
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01978Samples_ID : CHM13,HG01978
>52932807>52932809ID : >52932807>52932809
TREF : T
TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGG[...]ALT : TAAAAATCAGTCCTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>52932807>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>52932807>52932809,>52932807>52932808>52932809; LV=0; NS=45; e=29539309; s=309; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 975
Gene_count : 2
fullAnnotation_mode : full
LOC105369321; LINC00301; [...2genes]Gene_name : LOC105369321; LINC00301;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MS4A13
Closest_right : MS4A8
.Location : .
CytoBand : q12.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv17976823; dbVar:nssv15155374
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:43586337-61699199; 11:59167743-62410184
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095
po_P_loss_coord : 11:11814023-118502397
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:60682068-60683699
Repeat_type_left : L1M4
Gap_left : .
GC_content_left : 0.250
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:60682068-60683699
Repeat_type_right : L1M4
Gap_right : .
GC_content_right : 0.250
CHM13,HG00733,HG01361,HG01928,HG01978Samples_ID : CHM13,HG00733,HG01361,HG01928,HG01978
>51713454>51713452ID : >51713454>51713452
GREF : G
GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA[...]ALT : GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTCAACTGCAAGAGGCGTTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCTTTATGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTGTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCACAAAAATG
60QUAL : 60
.FILTER : .
AC=5; AF=0.0561798; AN=89; AT=>51713454>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51713454>51713452,>51713454>51713453>51713452; LV=0; NS=45; e=60682422; s=975; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|1HG00733 : 1|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
1|0HG01928 : 1|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 975
splitAnnotation_mode : split
LINC00301Gene_name : LINC00301;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283197
intron6-intron6Location : intron6-intron6
CytoBand : q12.2
Location2 : UTR
Tx : NR_026946
Tx_version : 1
Tx_start : 60615750
Tx_end : 60687149
Exon_count : 7
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4487
Nearest_SS_type : 3'
Intersect_start : 60682421
Intersect_end : 60682422
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00733,HG01361,HG01928,HG01978Samples_ID : CHM13,HG00733,HG01361,HG01928,HG01978
>51713454>51713452ID : >51713454>51713452
GREF : G
GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA[...]ALT : GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTCAACTGCAAGAGGCGTTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCTTTATGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTGTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCACAAAAATG
60QUAL : 60
.FILTER : .
AC=5; AF=0.0561798; AN=89; AT=>51713454>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51713454>51713452,>51713454>51713453>51713452; LV=0; NS=45; e=60682422; s=975; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|1HG00733 : 1|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
1|0HG01928 : 1|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 975
splitAnnotation_mode : split
LOC105369321Gene_name : LOC105369321;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : q12.2
Location2 : UTR
Tx : XR_950148
Tx_version : 2
Tx_start : 60608294
Tx_end : 60683870
Exon_count : 5
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1373
Nearest_SS_type : 5'
Intersect_start : 60682421
Intersect_end : 60682422
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00733,HG01361,HG01928,HG01978Samples_ID : CHM13,HG00733,HG01361,HG01928,HG01978
>51713454>51713452ID : >51713454>51713452
GREF : G
GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTA[...]ALT : GTGTAGGGGTGGGTTGCCCCTACACACCTGTGGGTGTTTCTCGTAAGGTGGGACGAGAGATTTGGAAAAGAAAAAGACACAGAGACAAAGTATAGAGAAAGAAATAAGGGGAACCGGGGAACCAGCGTTCAGCATATGGAGGATCCCGCCAGCCTCTGAGTTCCCTTAGTATTTATTGATCATCTGTGGGTGTTTCTCAAAGAGGGGGATGTGTCAGGGTCACAAGACAATTGTGGGGAGAGGGTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAAAGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAGTGCTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGCGGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGAGACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTCTCAACTGCAAGAGGCGTTCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCTTTATGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTGTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACTCTGAGTTGACACAGCACACATTTCAGAGAGCACGGGGTTGGGGGGTAAGGTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAACAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAATCTGATCTCTCTTGCTTTTCCCCACAAAAATG
60QUAL : 60
.FILTER : .
AC=5; AF=0.0561798; AN=89; AT=>51713454>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51713454>51713452,>51713454>51713453>51713452; LV=0; NS=45; e=60682422; s=975; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|1HG00733 : 1|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
1|0HG01928 : 1|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 333
Gene_count : 2
fullAnnotation_mode : full
ENTPD1-AS1; CC2D2B; [...2genes]Gene_name : ENTPD1-AS1; CC2D2B;
LOEUF_bin : 5
GnomAD_pLI : 6.9071e-08
ExAC_pLI : 2.5177e-05
HI : .
TS : .
DDD_HI_percent : 39.36
ExAC_cnvZ : -0.139473685788115
ExAC_delZ : -0.898928787269124
ExAC_dupZ : 0.359353273130691
ExAC_synZ : 0.0888648180227952
ExAC_misZ : -0.149183554557628
Closest_left : ENTPD1
Closest_right : CCNJ
.Location : .
CytoBand : q24.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15161673; dbVar:nssv15162413; dbVar:nssv15161032
po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:91523737-133613639; 10:92586764-133613639; 10:95112608-116776637
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15125151; dbVar:nssv17969418; dbVar:nssv15150787; dbVar:nssv15133599; dbVar:nssv15147105
po_P_loss_coord : 10:12787208-133613639; 10:79925607-133787422; 10:90908125-97210627; 10:92148415-100049966; 10:92626681-97755102; 10:93181202-101356779
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_244783f4; gnomAD-SV_v3_DEL_chr10_f048c376; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:59459006-109812369; chr10:90655870-109812371; chr10:90661220-109812370; chr10:95946719-95999705; chr10:95953322-96028771; chr10:95958589-95986252
B_loss_AFmax : 0.4959
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:90655870-109812371 gnomAD-SV_v3_DEL_chr10_244783f4; chr10:95946719-95999705 dbVar; chr10:95958589-95986252 dbVar
po_B_loss_someG_coord : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2; chr10:90661220-109812370 gnomAD-SV_v3_DEL_chr10_f048c376; chr10:95953322-96028771 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 10:95959436-95959757; 10:95959793-95960093
Repeat_type_left : L1M4c; DNA1_Mam
Gap_left : .
GC_content_left : 0.255
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 10:95959436-95959757; 10:95959793-95960093
Repeat_type_right : L1M4c; DNA1_Mam
Gap_right : .
GC_content_right : 0.255
CHM13,HG01071Samples_ID : CHM13,HG01071
>45223033>45223031ID : >45223033>45223031
TREF : T
TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTAGTGT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>45223033>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45223033>45223031,>45223033<45223032>45223031; LV=0; NS=45; e=95959736; s=333; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 333
splitAnnotation_mode : split
CC2D2BGene_name : CC2D2B;
LOEUF_bin : 5
GnomAD_pLI : 6.9071e-08
ExAC_pLI : 2.5177e-05
HI : .
TS : .
DDD_HI_percent : 39.36
ACMG : .
ExAC_cnvZ : -0.139473685788115
ExAC_delZ : -0.898928787269124
ExAC_dupZ : 0.359353273130691
ExAC_synZ : 0.0888648180227952
ExAC_misZ : -0.149183554557628
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 387707
intron11-intron11Location : intron11-intron11
CytoBand : q24.1
Location2 : CDS
Tx : XM_024447995
Tx_version : 2
Tx_start : 95907670
Tx_end : 96033745
Exon_count : 35
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2092
Nearest_SS_type : 3'
Intersect_start : 95959735
Intersect_end : 95959736
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_244783f4; gnomAD-SV_v3_DEL_chr10_f048c376; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:59459006-109812369; chr10:90655870-109812371; chr10:90661220-109812370; chr10:95946719-95999705; chr10:95953322-96028771; chr10:95958589-95986252
B_loss_AFmax : 0.4959
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01071Samples_ID : CHM13,HG01071
>45223033>45223031ID : >45223033>45223031
TREF : T
TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTAGTGT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>45223033>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45223033>45223031,>45223033<45223032>45223031; LV=0; NS=45; e=95959736; s=333; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 333
splitAnnotation_mode : split
ENTPD1-AS1Gene_name : ENTPD1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 728558
intron2-intron2Location : intron2-intron2
CytoBand : q24.1
Location2 : UTR
Tx : NR_038444
Tx_version : 1
Tx_start : 95753205
Tx_end : 96090235
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 83075
Nearest_SS_type : 3'
Intersect_start : 95959735
Intersect_end : 95959736
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_244783f4; gnomAD-SV_v3_DEL_chr10_f048c376; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:59459006-109812369; chr10:90655870-109812371; chr10:90661220-109812370; chr10:95946719-95999705; chr10:95953322-96028771; chr10:95958589-95986252
B_loss_AFmax : 0.4959
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01071Samples_ID : CHM13,HG01071
>45223033>45223031ID : >45223033>45223031
TREF : T
TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTAGTGT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>45223033>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45223033>45223031,>45223033<45223032>45223031; LV=0; NS=45; e=95959736; s=333; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 329
Gene_count : 2
fullAnnotation_mode : full
PPP1R9A; PPP1R9A-AS1; [...2genes]Gene_name : PPP1R9A; PPP1R9A-AS1;
LOEUF_bin : 2
GnomAD_pLI : 1.0812e-05
ExAC_pLI : 5.1340e-02
HI : .
TS : .
DDD_HI_percent : 36.02
ExAC_cnvZ : -1.31688670371898
ExAC_delZ : -1.76368745997495
ExAC_dupZ : -1.07722006947382
ExAC_synZ : 0.126701540005756
ExAC_misZ : 0.10941077293284
Closest_left : PEG10
Closest_right : LOC124901848
.Location : .
CytoBand : q21.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv16867381
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:87847871-100735704
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15139860; dbVar:nssv15138208; dbVar:nssv15143221; dbVar:nssv18330238; dbVar:nssv15128924; dbVar:nssv15151513; dbVar:nssv16216888; dbVar:nssv15167795; dbVar:nssv15149467; dbVar:nssv15132881
po_P_loss_coord : 7:54186-159282390; 7:84002635-95228883; 7:92759145-97568646; 7:92816139-100089362; 7:93092315-98682225; 7:93287241-95330121; 7:93655926-96651505; 7:93886821-96039421; 7:94070851-97321602; 7:94500515-95214765; 7:95127071-97873487
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr7_11db931b; gnomAD-SV_v3_DEL_chr7_4d7b9722
B_loss_coord : chr7:83903053-107770163; chr7:89874434-107770158
B_loss_AFmax : 0.2344
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr7:89874434-107770158 gnomAD-SV_v3_DEL_chr7_11db931b
po_B_loss_someG_coord : chr7:83903053-107770163 gnomAD-SV_v3_DEL_chr7_4d7b9722
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 7:95148694-95150302
Repeat_type_left : L1MC1
Gap_left : .
GC_content_left : 0.265
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 7:95148694-95150302
Repeat_type_right : L1MC1
Gap_right : .
GC_content_right : 0.265
CHM13,HG00733,HG00735,HG00741,HG01109,HG01258[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01109,HG01258,HG01361,HG03453,NA20129
>33180431>33180433ID : >33180431>33180433
AREF : A
ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGA
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>33180431>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>33180431>33180433,>33180431<33180432>33180433; LV=0; NS=45; e=95149741; s=329; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
1|1HG00735 : 1|1
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 329
splitAnnotation_mode : split
PPP1R9AGene_name : PPP1R9A;
LOEUF_bin : 2
GnomAD_pLI : 1.0812e-05
ExAC_pLI : 5.1340e-02
HI : 0
TS : 0
DDD_HI_percent : 36.02
ACMG : .
ExAC_cnvZ : -1.31688670371898
ExAC_delZ : -1.76368745997495
ExAC_dupZ : -1.07722006947382
ExAC_synZ : 0.126701540005756
ExAC_misZ : 0.10941077293284
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55607
intron4-intron4Location : intron4-intron4
CytoBand : q21.3
Location2 : CDS
Tx : XM_047420574
Tx_version : 1
Tx_start : 94907235
Tx_end : 95296415
Exon_count : 22
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 12125
Nearest_SS_type : 3'
Intersect_start : 95149740
Intersect_end : 95149741
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr7_11db931b; gnomAD-SV_v3_DEL_chr7_4d7b9722
B_loss_coord : chr7:83903053-107770163; chr7:89874434-107770158
B_loss_AFmax : 0.2344
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00733,HG00735,HG00741,HG01109,HG01258[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01109,HG01258,HG01361,HG03453,NA20129
>33180431>33180433ID : >33180431>33180433
AREF : A
ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGA
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>33180431>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>33180431>33180433,>33180431<33180432>33180433; LV=0; NS=45; e=95149741; s=329; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
1|1HG00735 : 1|1
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 329
splitAnnotation_mode : split
PPP1R9A-AS1Gene_name : PPP1R9A-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105375405
intron1-intron1Location : intron1-intron1
CytoBand : q21.3
Location2 : UTR
Tx : NR_183323
Tx_version : 1
Tx_start : 95035691
Tx_end : 95214332
Exon_count : 2
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 64443
Nearest_SS_type : 5'
Intersect_start : 95149740
Intersect_end : 95149741
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr7_11db931b; gnomAD-SV_v3_DEL_chr7_4d7b9722
B_loss_coord : chr7:83903053-107770163; chr7:89874434-107770158
B_loss_AFmax : 0.2344
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00733,HG00735,HG00741,HG01109,HG01258[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01109,HG01258,HG01361,HG03453,NA20129
>33180431>33180433ID : >33180431>33180433
AREF : A
ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : ATATTCTACATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGA
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>33180431>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>33180431>33180433,>33180431<33180432>33180433; LV=0; NS=45; e=95149741; s=329; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
1|1HG00735 : 1|1
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 289
Gene_count : 2
fullAnnotation_mode : full
CFAP20DC; CFAP20DC-AS1; [...2genes]Gene_name : CFAP20DC; CFAP20DC-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105377109
Closest_right : CFAP20DC-DT
.Location : .
CytoBand : p14.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115
po_P_gain_percent : 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124528; dbVar:nssv15146214; dbVar:nssv15774780; dbVar:nssv15148889; dbVar:nssv15147494
po_P_loss_coord : 3:52052584-59703483; 3:54045019-66060461; 3:57042109-65731281; 3:57140425-90259960; 3:57430539-64884522
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573; chr3:58933088-59035852
B_loss_AFmax : 0.0446
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr3:58933088-59035852 dbVar
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:58944535-58944659
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.415
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:58944535-58944659
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.420
CHM13,HG01243,HG01891,HG02145Samples_ID : CHM13,HG01243,HG01891,HG02145
>16052227>16052229ID : >16052227>16052229
TREF : T
TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
60QUAL : 60
.FILTER : .
AC=3; AF=0.0337079; AN=89; AT=>16052227>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>16052227>16052229,>16052227>16052228>16052229; LV=0; NS=45; e=58944666; s=289; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|1HG01243 : 0|1
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 289
splitAnnotation_mode : split
CFAP20DC-AS1Gene_name : CFAP20DC-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929238
intron1-intron1Location : intron1-intron1
CytoBand : p14.2
Location2 : UTR
Tx : NR_110820
Tx_version : 1
Tx_start : 58824470
Tx_end : 59019093
Exon_count : 3
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 25691
Nearest_SS_type : 3'
Intersect_start : 58944665
Intersect_end : 58944666
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573; chr3:58933088-59035852
B_loss_AFmax : 0.0446
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01243,HG01891,HG02145Samples_ID : CHM13,HG01243,HG01891,HG02145
>16052227>16052229ID : >16052227>16052229
TREF : T
TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
60QUAL : 60
.FILTER : .
AC=3; AF=0.0337079; AN=89; AT=>16052227>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>16052227>16052229,>16052227>16052228>16052229; LV=0; NS=45; e=58944666; s=289; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|1HG01243 : 0|1
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 289
splitAnnotation_mode : split
CFAP20DCGene_name : CFAP20DC;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 200844
intron4-intron4Location : intron4-intron4
CytoBand : p14.2
Location2 : UTR
Tx : XR_001740051
Tx_version : 3
Tx_start : 58716172
Tx_end : 59050025
Exon_count : 18
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6903
Nearest_SS_type : 3'
Intersect_start : 58944665
Intersect_end : 58944666
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573; chr3:58933088-59035852
B_loss_AFmax : 0.0446
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01243,HG01891,HG02145Samples_ID : CHM13,HG01243,HG01891,HG02145
>16052227>16052229ID : >16052227>16052229
TREF : T
TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTATATTCTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG
60QUAL : 60
.FILTER : .
AC=3; AF=0.0337079; AN=89; AT=>16052227>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>16052227>16052229,>16052227>16052228>16052229; LV=0; NS=45; e=58944666; s=289; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|1HG01243 : 0|1
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 480
Gene_count : 1
fullAnnotation_mode : full
DCCGene_name : DCC;
LOEUF_bin : 1
GnomAD_pLI : 9.9448e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 1.44
ExAC_cnvZ : 0.608948223776361
ExAC_delZ : 0.686808371719195
ExAC_dupZ : 0.422606156903191
ExAC_synZ : -0.918640774398169
ExAC_misZ : 0.149129298898277
Closest_left : LOC105372121
Closest_right : MIR4528
.Location : .
CytoBand : q21.2
120470; OMIM_ID : 120470;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17976993; dbVar:nssv15174218; dbVar:nssv15173597; dbVar:nssv15146417; dbVar:nssv15147412; dbVar:nssv15148237; nssv17969152; dbVar:nssv15148196; nssv15150633; dbVar:nssv15145762; dbVar:nssv15146335; nssv15148275; dbVar:nssv15147988; dbVar:nssv15147431; dbVar:nssv15147830; dbVar:nssv15147673; dbVar:nssv15151212; dbVar:nssv15128647; dbVar:nssv15150311; dbVar:nssv15132210; dbVar:nssv15139135; dbVar:nssv15140063; dbVar:nssv15132211; dbVar:nssv17649868; dbVar:nssv15134857; dbVar:nssv15152160; dbVar:nssv15151252; dbVar:nssv15155583; dbVar:nssv15134862; dbVar:nssv15138318; dbVar:nssv15134660; dbVar:nssv15142560; dbVar:nssv15143113; dbVar:nssv15775313; dbVar:nssv15137097; dbVar:nssv15142439; dbVar:nssv15132092
po_P_gain_coord : 18:10002-80259271; 18:12843-80257297; 18:13035-80257297; 18:53346-80209986; 18:118761-80254946; 18:136227-80256240; 18:136228-80256240; 18:148964-80244381; 18:148964-80252149; 18:149090-80234391; 18:149090-80254936; 18:163324-80247302; 18:163324-80247353; 18:14869206-80256240; 18:15380698-80258298; 18:20941325-66828561; 18:20960321-80234429; 18:20962120-74691446; 18:20968059-80196282; 18:20989763-80209986; 18:26046776-80257093; 18:32123106-80252149; 18:34299891-80256240; 18:35837253-80256240; 18:38286350-57415751; 18:38794729-65632804; 18:40367456-80256240; 18:42651393-80254946; 18:45350409-80256240; 18:46196805-80256240; 18:48094785-63749302; 18:49199412-80254946; 18:49928068-80256240; 18:50068130-80252149
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955847; dbVar:nssv15150331; dbVar:nssv15155584; dbVar:nssv17969172; dbVar:nssv15138502; dbVar:nssv15132872; dbVar:nssv15134458; dbVar:nssv16208540; dbVar:nssv15131766; dbVar:nssv15136669
po_P_loss_coord : 18:1262334-55587520; 18:48651428-80256240; 18:49416058-80256240; 18:50130430-80256240; 18:51167160-80256240; 18:51190430-80252149; 18:51875429-55658999; 18:51934227-80256240; 18:52156900-65408762; 18:52421053-80254946
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr18:51363764-52839032
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr18:52406330-53175630
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr18:51363764-52839032 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr18:52406330-53175630 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.435
CHM13Samples_ID : CHM13
>68465081>68465083ID : >68465081>68465083
TREF : T
TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT[...]ALT : TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>68465081>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68465081>68465083,>68465081>68465082>68465083; LV=0; NS=45; e=52571371; s=480; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 480
splitAnnotation_mode : split
DCCGene_name : DCC;
LOEUF_bin : 1
GnomAD_pLI : 9.9448e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 1.44
ACMG : .
ExAC_cnvZ : 0.608948223776361
ExAC_delZ : 0.686808371719195
ExAC_dupZ : 0.422606156903191
ExAC_synZ : -0.918640774398169
ExAC_misZ : 0.149129298898277
GenCC_disease : Kallmann syndrome; colorectal cancer; connective tissue disorder; esophageal cancer; familial congenital mirror movements; gaze palsy, familial horizontal, with progressive scoliosis, 2; mirror movements 1; mirror movements 1 and/or agenesis of the corpus callosum
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Moderate; No Known Disease Relationship; Strong; Supportive
GenCC_pmid : 19720981; 20431009; 20431009[PMID]; 21242494; 24808016; 25644941; 25813273; 28250454; 28341853; 29202173[PMID]; 29366874
NCBI_gene_ID : 1630
intron1-intron1Location : intron1-intron1
CytoBand : q21.2
Location2 : CDS
Tx : NM_005215
Tx_version : 4
Tx_start : 52340196
Tx_end : 53535899
Exon_count : 29
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 180682
Nearest_SS_type : 3'
Intersect_start : 52571370
Intersect_end : 52571371
120470; OMIM_ID : 120470;
OMIM_phenotype : Colorectal cancer, somatic, 114500 (3);
Esophageal carcinoma, somatic, 133239 (3);
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3) AR;
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr18:51363764-52839032
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr18:52406330-53175630
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13Samples_ID : CHM13
>68465081>68465083ID : >68465081>68465083
TREF : T
TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT[...]ALT : TCAGTGTTTCTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>68465081>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68465081>68465083,>68465081>68465082>68465083; LV=0; NS=45; e=52571371; s=480; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 1394
Gene_count : 1
fullAnnotation_mode : full
KCNH5Gene_name : KCNH5;
LOEUF_bin : 2
GnomAD_pLI : 1.9692e-02
ExAC_pLI : 7.6905e-01
HI : .
TS : .
DDD_HI_percent : 10.41
ExAC_cnvZ : 1.14205654019599
ExAC_delZ : 0.517046667946064
ExAC_dupZ : 1.25350634603708
ExAC_synZ : -0.584183564959809
ExAC_misZ : 2.7763863861762
Closest_left : LOC105370528
Closest_right : LOC105370531
.Location : .
CytoBand : q23.2
605716; OMIM_ID : 605716;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv17976728; dbVar:nssv17517489; dbVar:nssv16255563
po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20043515-106877229; 14:20151150-106855263; 14:37201854-106530013; 14:54187284-75361321; 14:60943139-65275892
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Developmental and epileptic encephalopathy 112, 620537 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15146256; dbVar:nssv18329512; dbVar:nssv15147456; dbVar:nssv15132074; dbVar:nssv15134744; morbid:KCNH5
po_P_loss_coord : 14:57041037-67208231; 14:57338280-63123485; 14:57653414-64093528; 14:59917052-66750803; 14:62252701-65753416; 14:62779748-63045458
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr14_040215df; gnomAD-SV_v3_DEL_chr14_aa7bf92b
B_loss_coord : chr14:41140072-69277618; chr14:56471274-99420950
B_loss_AFmax : 0.6330
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr14:56471274-99420950 gnomAD-SV_v3_DEL_chr14_aa7bf92b
po_B_loss_someG_coord : chr14:41140072-69277618 gnomAD-SV_v3_DEL_chr14_040215df
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 14:62881707-62881861
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 14:62881707-62881861
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.360
CHM13,HG00741Samples_ID : CHM13,HG00741
>58858300>58858298ID : >58858300>58858298
CREF : C
CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGA[...]ALT : CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCACATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCCGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTATAACTTAGAGTATAATAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>58858300>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>58858300>58858298,>58858300<58858299>58858298; LV=0; NS=45; e=62881760; s=1394; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|1HG00741 : 0|1
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 1394
splitAnnotation_mode : split
KCNH5Gene_name : KCNH5;
LOEUF_bin : 2
GnomAD_pLI : 1.9692e-02
ExAC_pLI : 7.6905e-01
HI : .
TS : .
DDD_HI_percent : 10.41
ACMG : .
ExAC_cnvZ : 1.14205654019599
ExAC_delZ : 0.517046667946064
ExAC_dupZ : 1.25350634603708
ExAC_synZ : -0.584183564959809
ExAC_misZ : 2.7763863861762
GenCC_disease : infantile-onset epilepsy
GenCC_moi : AD
GenCC_classification : Definitive
GenCC_pmid : .
NCBI_gene_ID : 27133
intron7-intron7Location : intron7-intron7
CytoBand : q23.2
Location2 : CDS
Tx : NM_139318
Tx_version : 5
Tx_start : 62699463
Tx_end : 63045458
Exon_count : 11
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 31907
Nearest_SS_type : 3'
Intersect_start : 62881759
Intersect_end : 62881760
605716; OMIM_ID : 605716;
OMIM_phenotype : Developmental and epileptic encephalopathy 112, 620537 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr14_040215df; gnomAD-SV_v3_DEL_chr14_aa7bf92b
B_loss_coord : chr14:41140072-69277618; chr14:56471274-99420950
B_loss_AFmax : 0.6330
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00741Samples_ID : CHM13,HG00741
>58858300>58858298ID : >58858300>58858298
CREF : C
CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGA[...]ALT : CCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCACATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCCGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTATAACTTAGAGTATAATAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>58858300>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>58858300>58858298,>58858300<58858299>58858298; LV=0; NS=45; e=62881760; s=1394; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|1HG00741 : 0|1
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 364
Gene_count : 1
fullAnnotation_mode : full
CITGene_name : CIT;
LOEUF_bin : 0
GnomAD_pLI : 9.9970e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 9.65
ExAC_cnvZ : 1.00738639885524
ExAC_delZ : 1.1736013546943
ExAC_dupZ : 0.764781999253212
ExAC_synZ : 0.461846199204778
ExAC_misZ : 4.40981927361563
Closest_left : LOC124903033
Closest_right : MIR1178
.Location : .
CytoBand : q24.23
605629; OMIM_ID : 605629;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv15148260; dbVar:nssv15147181; dbVar:nssv17955871; dbVar:nssv17969563; dbVar:nssv15146204
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:114268404-133201316; 12:115131584-133166920; 12:117024098-133264809; 12:118049038-120557579; 12:118165460-133182322
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Microcephaly 17, primary, AR, 617090 (3) AR
po_P_loss_hpo : .
po_P_loss_source : morbid:CIT
po_P_loss_coord : 12:119685791-119877320
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.410
CHM13,HG00733Samples_ID : CHM13,HG00733
>55020969>55020971ID : >55020969>55020971
CREF : C
CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG[...]ALT : CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGTCCAC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>55020969>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>55020969>55020971,>55020969<55020970>55020971; LV=0; NS=45; e=119693044; s=364; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 364
splitAnnotation_mode : split
CITGene_name : CIT;
LOEUF_bin : 0
GnomAD_pLI : 9.9970e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 9.65
ACMG : .
ExAC_cnvZ : 1.00738639885524
ExAC_delZ : 1.1736013546943
ExAC_dupZ : 0.764781999253212
ExAC_synZ : 0.461846199204778
ExAC_misZ : 4.40981927361563
GenCC_disease : autosomal recessive primary microcephaly; microcephaly 11, primary, autosomal recessive; microcephaly 17, primary, autosomal recessive
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 27453578; 27453578[PMID]; 27453579; 27503289
NCBI_gene_ID : 11113
intron37-intron37Location : intron37-intron37
CytoBand : q24.23
Location2 : CDS
Tx : XM_011537791
Tx_version : 3
Tx_start : 119685790
Tx_end : 119784845
Exon_count : 39
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2589
Nearest_SS_type : 3'
Intersect_start : 119693043
Intersect_end : 119693044
605629; OMIM_ID : 605629;
OMIM_phenotype : Microcephaly 17, primary, AR, 617090 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00733Samples_ID : CHM13,HG00733
>55020969>55020971ID : >55020969>55020971
CREF : C
CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG[...]ALT : CGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGTGTCCAC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>55020969>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>55020969>55020971,>55020969<55020970>55020971; LV=0; NS=45; e=119693044; s=364; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 315
Gene_count : 1
fullAnnotation_mode : full
CNOT2Gene_name : CNOT2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9987e-01
HI : 1
TS : .
DDD_HI_percent : 4.39
ExAC_cnvZ : 0.478829454903821
ExAC_delZ : 1.09825948406245
ExAC_dupZ : 0.0421341328539237
ExAC_synZ : 1.46995640932789
ExAC_misZ : 3.67134252802436
Closest_left : PRANCR
Closest_right : KCNMB4
.Location : .
CytoBand : q15
604909; OMIM_ID : 604909;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17649865; dbVar:nssv15146017; dbVar:nssv15147301; dbVar:nssv16255452; dbVar:nssv15157811; dbVar:nssv17957078; dbVar:nssv15147333; dbVar:nssv15145770; dbVar:nssv15146233; dbVar:nssv15150216; dbVar:nssv15147808; morbid:CNOT2; dbVar:nssv17955483
po_P_loss_coord : 12:64857926-74869599; 12:65445177-71026337; 12:68011418-75383054; 12:68178607-70440088; 12:69214311-89235568; 12:69690697-76671984; 12:69769738-76964217; 12:70029315-70599455; 12:70051306-71116195; 12:70181697-72950879; 12:70194956-70973089; 12:70278132-70354993; 12:70278538-70363561
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.405
CHM13,HG02055Samples_ID : CHM13,HG02055
>53885903>53885905ID : >53885903>53885905
GREF : G
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGGGAGTTTG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>53885903>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53885903>53885905,>53885903<53885904>53885905; LV=0; NS=45; e=70321807; s=315; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|0HG02055 : 1|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 315
splitAnnotation_mode : split
CNOT2Gene_name : CNOT2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9987e-01
HI : 1
TS : 0
DDD_HI_percent : 4.39
ACMG : .
ExAC_cnvZ : 0.478829454903821
ExAC_delZ : 1.09825948406245
ExAC_dupZ : 0.0421341328539237
ExAC_synZ : 1.46995640932789
ExAC_misZ : 3.67134252802436
GenCC_disease : intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
GenCC_moi : AD
GenCC_classification : Strong
GenCC_pmid : 28191890; 30768759; 31145527; 31512373; 36224108
NCBI_gene_ID : 4848
intron5-intron5Location : intron5-intron5
CytoBand : q15
Location2 : CDS
Tx : NM_001199302
Tx_version : 2
Tx_start : 70243017
Tx_end : 70354993
Exon_count : 17
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2442
Nearest_SS_type : 5'
Intersect_start : 70321806
Intersect_end : 70321807
604909; OMIM_ID : 604909;
OMIM_phenotype : Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02055Samples_ID : CHM13,HG02055
>53885903>53885905ID : >53885903>53885905
GREF : G
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGGGAGTTTG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>53885903>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53885903>53885905,>53885903<53885904>53885905; LV=0; NS=45; e=70321807; s=315; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|0HG02055 : 1|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 1078
Gene_count : 1
fullAnnotation_mode : full
PPP2R1BGene_name : PPP2R1B;
LOEUF_bin : 5
GnomAD_pLI : 3.0047e-15
ExAC_pLI : 2.1883e-07
HI : .
TS : .
DDD_HI_percent : 17.77
ExAC_cnvZ : -0.735293099682741
ExAC_delZ : -0.0570158045065236
ExAC_dupZ : -1.02263029760554
ExAC_synZ : 0.939472163892957
ExAC_misZ : 0.566132374981519
Closest_left : SIK2
Closest_right : ALG9
.Location : .
CytoBand : q23.1
603113; OMIM_ID : 603113;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ALG9 (morbid/RE=EA_enhancer); BTG4 (morbid/RE[...]RE_gene : ALG9 (morbid/RE=EA_enhancer); BTG4 (morbid/RE=EA_enhancer); SDHD (HI=3/morbid/RE=EA_enhancer); CRYAB (morbid/RE=EA_enhancer+GH_enhancer); PTS (morbid/RE=EA_enhancer); DLAT (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Lung cancer, somatic, 211980 (3)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv17173306; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287; dbVar:nssv18789545; dbVar:nssv18789543; dbVar:nssv16213755; morbid:PPP2R1B
po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:94420120-112094976; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249; 11:111300985-112087983; 11:111300985-112089021; 11:111300985-112094970; 11:111737877-111766389
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:111746201-111746659
Repeat_type_left : L1PA8
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:111746201-111746659
Repeat_type_right : L1PA8
Gap_right : .
GC_content_right : 0.350
CHM13,HG00733Samples_ID : CHM13,HG00733
>50208867>50208869ID : >50208867>50208869
CREF : C
CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTAC[...]ALT : CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGATCTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGACTTGAGGCC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>50208867>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50208867>50208869,>50208867>50208868>50208869; LV=0; NS=45; e=111746218; s=1078; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 1078
splitAnnotation_mode : split
PPP2R1BGene_name : PPP2R1B;
LOEUF_bin : 5
GnomAD_pLI : 3.0047e-15
ExAC_pLI : 2.1883e-07
HI : .
TS : .
DDD_HI_percent : 17.77
ACMG : .
ExAC_cnvZ : -0.735293099682741
ExAC_delZ : -0.0570158045065236
ExAC_dupZ : -1.02263029760554
ExAC_synZ : 0.939472163892957
ExAC_misZ : 0.566132374981519
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5519
intron10-intron10Location : intron10-intron10
CytoBand : q23.1
Location2 : CDS
Tx : XM_024448600
Tx_version : 2
Tx_start : 111687999
Tx_end : 111766389
Exon_count : 16
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1735
Nearest_SS_type : 5'
Intersect_start : 111746217
Intersect_end : 111746218
603113; OMIM_ID : 603113;
OMIM_phenotype : Lung cancer, somatic, 211980 (3);
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00733Samples_ID : CHM13,HG00733
>50208867>50208869ID : >50208867>50208869
CREF : C
CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTAC[...]ALT : CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGATCTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGACTTGAGGCC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>50208867>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50208867>50208869,>50208867>50208868>50208869; LV=0; NS=45; e=111746218; s=1078; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 321
Gene_count : 1
fullAnnotation_mode : full
KAT6AGene_name : KAT6A;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : 3
TS : .
DDD_HI_percent : .
ExAC_cnvZ : 0.702709843958985
ExAC_delZ : 1.09040842311785
ExAC_dupZ : 0.315293016883196
ExAC_synZ : -0.112462969274603
ExAC_misZ : 2.19042376439798
Closest_left : LOC105379392
Closest_right : LOC124900271
.Location : .
CytoBand : p11.21
601408; OMIM_ID : 601408;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15127651; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv16736635; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15149889; dbVar:nssv15147361; dbVar:nssv15147299; dbVar:nssv15146164; nssv15148289; dbVar:nssv15146540; dbVar:nssv15147311; dbVar:nssv15161426; dbVar:nssv15145944; dbVar:nssv15149649; dbVar:nssv15145668; nssv15148288; dbVar:nssv15146476; dbVar:nssv15146477; dbVar:nssv15161357; dbVar:nssv15132076; dbVar:nssv15132643; dbVar:nssv15777249; dbVar:nssv15128918; dbVar:nssv15147495; dbVar:nssv18842077; dbVar:nssv15121963; dbVar:nssv15774700; dbVar:nssv15119924; dbVar:nssv15138444; dbVar:nssv15119925; dbVar:nssv15140401; dbVar:nssv15121964
po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:213683-46027320; 8:214985-145068028; 8:226453-145068712; 8:226815-43541633; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12077515-43968892; 8:12182422-43673207; 8:12383585-43673207; 8:12609976-42085703; 8:12609976-43336172; 8:12609976-43673207; 8:12633491-145070385; 8:12646124-43686843; 8:12722624-43533090; 8:12728905-43673207; 8:12750797-43532444; 8:14940111-47929925; 8:21291523-145070385; 8:25832131-48521849; 8:29719898-48521849; 8:32079036-145070385; 8:33987548-46027320; 8:36580104-59618998; 8:36905659-50017147; 8:37899431-42371734; 8:39698139-63136530; 8:39830634-49209461; 8:39960532-43673207; 8:39981425-43532444; 8:40832680-43533090; 8:41845700-47893948
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Arboleda-Tham syndrome, 616268 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15132279; dbVar:nssv15125997; dbVar:nssv15772817; HI3:KAT6A; morbid:KAT6A
po_P_loss_coord : 8:34312251-43158901; 8:37451936-46027320; 8:41904296-42249590; 8:41929480-42051987; 8:41942049-42051987
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.315
CHM13,HG02572Samples_ID : CHM13,HG02572
>38258440>38258442ID : >38258440>38258442
TREF : T
TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]ALT : TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>38258440>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38258440>38258442,>38258440>38258441>38258442; LV=0; NS=45; e=41993998; s=321; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 321
splitAnnotation_mode : split
KAT6AGene_name : KAT6A;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : 3
TS : 0
DDD_HI_percent : 19
ACMG : .
ExAC_cnvZ : 0.702709843958985
ExAC_delZ : 1.09040842311785
ExAC_dupZ : 0.315293016883196
ExAC_synZ : -0.112462969274603
ExAC_misZ : 2.19042376439798
GenCC_disease : autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; syndromic intellectual disability
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 16651658; 22921202; 25728775; 25728775[PMID]_25728777[PMID]; 25728777; 27133397; 29899504; 30245513; 30775047; 31754438; 32041641; 35892268
NCBI_gene_ID : 7994
intron2-intron2Location : intron2-intron2
CytoBand : p11.21
Location2 : CDS
Tx : NM_006766
Tx_version : 5
Tx_start : 41929478
Tx_end : 42051987
Exon_count : 17
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6434
Nearest_SS_type : 3'
Intersect_start : 41993997
Intersect_end : 41993998
601408; OMIM_ID : 601408;
OMIM_phenotype : Arboleda-Tham syndrome, 616268 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02572Samples_ID : CHM13,HG02572
>38258440>38258442ID : >38258440>38258442
TREF : T
TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAG[...]ALT : TCTACAAGCTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>38258440>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38258440>38258442,>38258440>38258441>38258442; LV=0; NS=45; e=41993998; s=321; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 316
Gene_count : 1
fullAnnotation_mode : full
ANLNGene_name : ANLN;
LOEUF_bin : 1
GnomAD_pLI : 1.4261e-01
ExAC_pLI : 9.2352e-01
HI : .
TS : .
DDD_HI_percent : 39.04
ExAC_cnvZ : 1.09204628201289
ExAC_delZ : 0.710508734393195
ExAC_dupZ : 1.04781674275271
ExAC_synZ : -0.0743439014407289
ExAC_misZ : -0.203952633529516
Closest_left : MATCAP2
Closest_right : AOAH
.Location : .
CytoBand : p14.2
616027; OMIM_ID : 616027;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161745; dbVar:nssv15161726; dbVar:nssv15161869; dbVar:nssv17970205; dbVar:nssv15154527; dbVar:nssv15146465
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:54186-37089712; 7:54186-41875885; 7:11009214-52795933; 7:27468214-39032873; 7:30424271-43431206; 7:33328313-62377476
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Focal segmental glomerulosclerosis 8, 616032 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15147510; dbVar:nssv15148432; dbVar:nssv15147453; morbid:ANLN
po_P_loss_coord : 7:54186-159282390; 7:32678392-41044983; 7:32871392-44536406; 7:35460777-42013800; 7:36389862-36453791
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr7_f5bb684d
B_loss_coord : chr7:26936102-36716780
B_loss_AFmax : 0.0533
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr7:26936102-36716780 gnomAD-SV_v3_DEL_chr7_f5bb684d
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.250
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.255
CHM13,NA18906Samples_ID : CHM13,NA18906
>34606394>34606396ID : >34606394>34606396
AREF : A
AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34606394>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34606394>34606396,>34606394>34606395>34606396; CONFLICT=HG01243; LV=0; NS=45; e=36394634; s=316; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
1|0NA18906 : 1|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 316
splitAnnotation_mode : split
ANLNGene_name : ANLN;
LOEUF_bin : 1
GnomAD_pLI : 1.4261e-01
ExAC_pLI : 9.2352e-01
HI : .
TS : .
DDD_HI_percent : 39.04
ACMG : .
ExAC_cnvZ : 1.09204628201289
ExAC_delZ : 0.710508734393195
ExAC_dupZ : 1.04781674275271
ExAC_synZ : -0.0743439014407289
ExAC_misZ : -0.203952633529516
GenCC_disease : familial idiopathic steroid-resistant nephrotic syndrome; focal segmental glomerulosclerosis 8
GenCC_moi : AD
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 24676636; 24676636[PMID]; 29869118; 30406062
NCBI_gene_ID : 54443
intron1-intron1Location : intron1-intron1
CytoBand : p14.2
Location2 : CDS
Tx : NM_001284301
Tx_version : 3
Tx_start : 36389861
Tx_end : 36453791
Exon_count : 23
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1631
Nearest_SS_type : 3'
Intersect_start : 36394633
Intersect_end : 36394634
616027; OMIM_ID : 616027;
OMIM_phenotype : Focal segmental glomerulosclerosis 8, 616032 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr7_f5bb684d
B_loss_coord : chr7:26936102-36716780
B_loss_AFmax : 0.0533
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,NA18906Samples_ID : CHM13,NA18906
>34606394>34606396ID : >34606394>34606396
AREF : A
AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AAGAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34606394>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34606394>34606396,>34606394>34606395>34606396; CONFLICT=HG01243; LV=0; NS=45; e=36394634; s=316; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
1|0NA18906 : 1|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 322
Gene_count : 1
fullAnnotation_mode : full
FRAS1Gene_name : FRAS1;
LOEUF_bin : 3
GnomAD_pLI : 3.0802e-45
ExAC_pLI : 2.2900e-23
HI : .
TS : .
DDD_HI_percent : 41.67
ExAC_cnvZ : -0.38579065416304
ExAC_delZ : -1.18699399079496
ExAC_dupZ : -0.00389550706240629
ExAC_synZ : -1.71964173016423
ExAC_misZ : -1.86555635638448
Closest_left : SNORD161
Closest_right : ANXA3
.Location : .
CytoBand : q21.21
607830; OMIM_ID : 607830;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15774461; dbVar:nssv15146779; dbVar:nssv15148858; dbVar:nssv17969957; dbVar:nssv15122970
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-97505618; 4:52000779-142661354; 4:67377067-82070278; 4:68686089-95294456; 4:72262259-86002147; 4:74812131-90210005; 4:75801144-79005805
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Fraser syndrome 1, 219000 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15125766; dbVar:nssv18830797; dbVar:nssv16207960; dbVar:nssv16254734; dbVar:nssv16207962; dbVar:nssv17969955; dbVar:nssv15146323; dbVar:nssv15775178; morbid:FRAS1
po_P_loss_coord : 4:58301080-100989502; 4:67833056-82716065; 4:68084646-78817444; 4:70546693-86999632; 4:71815163-85505079; 4:72189597-79162000; 4:75453112-84094295; 4:77848144-84047679; 4:78057323-78544269
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9
B_loss_coord : chr4:73564711-189048534; chr4:78344768-78470852
B_loss_AFmax : 0.2162
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:78344768-78470852 dbVar
po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.405
CHM13,HG01243,HG02145,HG02723,HG02886,HG03098[...]Samples_ID : CHM13,HG01243,HG02145,HG02723,HG02886,HG03098,HG03516
>19997800>19997802ID : >19997800>19997802
AREF : A
AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCA[...]ALT : AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAA
60QUAL : 60
.FILTER : .
AC=8; AF=0.0898876; AN=89; AT=>19997800>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>19997800>19997802,>19997800<19997801>19997802; LV=0; NS=45; e=78450987; s=322; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
1|0HG01243 : 1|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
1|1HG02723 : 1|1
0|0HG02818 : 0|0
1|1HG02886 : 1|1
1|0HG03098 : 1|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 322
splitAnnotation_mode : split
FRAS1Gene_name : FRAS1;
LOEUF_bin : 3
GnomAD_pLI : 3.0802e-45
ExAC_pLI : 2.2900e-23
HI : .
TS : .
DDD_HI_percent : 41.67
ACMG : .
ExAC_cnvZ : -0.38579065416304
ExAC_delZ : -1.18699399079496
ExAC_dupZ : -0.00389550706240629
ExAC_synZ : -1.71964173016423
ExAC_misZ : -1.86555635638448
GenCC_disease : Fraser syndrome; Fraser syndrome 1; renal agenesis, unilateral
GenCC_moi : AD; AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 12766769; 127667690; 15838507; 16894541; 17163535; 18203166; 18671281; 21900877[PMID]_24700879[PMID]; 23473829[PMID]
NCBI_gene_ID : 80144
intron45-intron45Location : intron45-intron45
CytoBand : q21.21
Location2 : CDS
Tx : NM_025074
Tx_version : 7
Tx_start : 78057322
Tx_end : 78544269
Exon_count : 74
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 647
Nearest_SS_type : 5'
Intersect_start : 78450986
Intersect_end : 78450987
607830; OMIM_ID : 607830;
OMIM_phenotype : Fraser syndrome 1, 219000 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9
B_loss_coord : chr4:73564711-189048534; chr4:78344768-78470852
B_loss_AFmax : 0.2162
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01243,HG02145,HG02723,HG02886,HG03098[...]Samples_ID : CHM13,HG01243,HG02145,HG02723,HG02886,HG03098,HG03516
>19997800>19997802ID : >19997800>19997802
AREF : A
AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCA[...]ALT : AACAAGTGTCCCGGCCGGGCGCGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAA
60QUAL : 60
.FILTER : .
AC=8; AF=0.0898876; AN=89; AT=>19997800>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>19997800>19997802,>19997800<19997801>19997802; LV=0; NS=45; e=78450987; s=322; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
1|0HG01243 : 1|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
1|1HG02723 : 1|1
0|0HG02818 : 0|0
1|1HG02886 : 1|1
1|0HG03098 : 1|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 291
Gene_count : 1
fullAnnotation_mode : full
TECRLGene_name : TECRL;
LOEUF_bin : 7
GnomAD_pLI : 3.1983e-12
ExAC_pLI : 6.3998e-10
HI : .
TS : .
DDD_HI_percent : 37.79
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.10320918315004
ExAC_misZ : -1.45546820389316
Closest_left : LOC124900851
Closest_right : LOC107986284
.Location : .
CytoBand : q13.1
617242; OMIM_ID : 617242;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15150634; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68454-65574904; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; morbid:TECRL
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:64309826-64409460
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr4:63452671-64357231; chr4:64342926-64472027
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:64342926-64472027 dbVar
po_B_loss_someG_coord : chr4:63452671-64357231 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:64351003-64351294
Repeat_type_left : L1MA4A
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:64351003-64351294
Repeat_type_right : L1MA4A
Gap_right : .
GC_content_right : 0.350
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01361,HG01952,HG01978,HG02055,HG02080,HG02109,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02717,HG02818,HG02886,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>19665084>19665086ID : >19665084>19665086
GREF : G
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=50; AF=0.561798; AN=89; AT=>19665084>[...]INFO : AC=50; AF=0.561798; AN=89; AT=>19665084>19665086,>19665084<19665085>19665086; LV=0; NS=45; e=64351028; s=291; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
1|0HG00438 : 1|0
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
0|1HG01071 : 0|1
1|0HG01106 : 1|0
1|0HG01109 : 1|0
0|1HG01123 : 0|1
0|1HG01175 : 0|1
0|0HG01243 : 0|0
1|0HG01258 : 1|0
1|0HG01358 : 1|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|1HG02055 : 0|1
1|1HG02080 : 1|1
0|1HG02109 : 0|1
0|0HG02145 : 0|0
0|1HG02148 : 0|1
1|0HG02257 : 1|0
1|1HG02486 : 1|1
1|0HG02559 : 1|0
1|1HG02572 : 1|1
0|1HG02622 : 0|1
0|0HG02630 : 0|0
1|0HG02717 : 1|0
0|0HG02723 : 0|0
1|0HG02818 : 1|0
1|1HG02886 : 1|1
0|0HG03098 : 0|0
0|1HG03453 : 0|1
1|1HG03486 : 1|1
1|0HG03492 : 1|0
1|0HG03516 : 1|0
1|0HG03540 : 1|0
1|0HG03579 : 1|0
1|1NA18906 : 1|1
1|0NA20129 : 1|0
1|0NA21309 : 1|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 291
splitAnnotation_mode : split
TECRLGene_name : TECRL;
LOEUF_bin : 7
GnomAD_pLI : 3.1983e-12
ExAC_pLI : 6.3998e-10
HI : .
TS : .
DDD_HI_percent : 37.79
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.10320918315004
ExAC_misZ : -1.45546820389316
GenCC_disease : catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia 3
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 27861123; 27861123[PMID]; 30790670; 32173957; 33367594
NCBI_gene_ID : 253017
intron2-intron2Location : intron2-intron2
CytoBand : q13.1
Location2 : CDS
Tx : NM_001363796
Tx_version : 1
Tx_start : 64276297
Tx_end : 64409460
Exon_count : 12
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 22471
Nearest_SS_type : 3'
Intersect_start : 64351027
Intersect_end : 64351028
617242; OMIM_ID : 617242;
OMIM_phenotype : Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr4:63452671-64357231; chr4:64342926-64472027
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01361,HG01952,HG01978,HG02055,HG02080,HG02109,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02717,HG02818,HG02886,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>19665084>19665086ID : >19665084>19665086
GREF : G
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=50; AF=0.561798; AN=89; AT=>19665084>[...]INFO : AC=50; AF=0.561798; AN=89; AT=>19665084>19665086,>19665084<19665085>19665086; LV=0; NS=45; e=64351028; s=291; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
1|0HG00438 : 1|0
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
0|1HG01071 : 0|1
1|0HG01106 : 1|0
1|0HG01109 : 1|0
0|1HG01123 : 0|1
0|1HG01175 : 0|1
0|0HG01243 : 0|0
1|0HG01258 : 1|0
1|0HG01358 : 1|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|1HG02055 : 0|1
1|1HG02080 : 1|1
0|1HG02109 : 0|1
0|0HG02145 : 0|0
0|1HG02148 : 0|1
1|0HG02257 : 1|0
1|1HG02486 : 1|1
1|0HG02559 : 1|0
1|1HG02572 : 1|1
0|1HG02622 : 0|1
0|0HG02630 : 0|0
1|0HG02717 : 1|0
0|0HG02723 : 0|0
1|0HG02818 : 1|0
1|1HG02886 : 1|1
0|0HG03098 : 0|0
0|1HG03453 : 0|1
1|1HG03486 : 1|1
1|0HG03492 : 1|0
1|0HG03516 : 1|0
1|0HG03540 : 1|0
1|0HG03579 : 1|0
1|1NA18906 : 1|1
1|0NA20129 : 1|0
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 160
Gene_count : 1
fullAnnotation_mode : full
PES1Gene_name : PES1;
LOEUF_bin : 1
GnomAD_pLI : 7.1904e-01
ExAC_pLI : 6.5511e-01
HI : .
TS : .
DDD_HI_percent : 34.12
ExAC_cnvZ : 1.51269056500574
ExAC_delZ : 1.0463917854169
ExAC_dupZ : 1.34830154957796
ExAC_synZ : 0.0440009621206941
ExAC_misZ : 0.646709555675726
Closest_left : GAL3ST1
Closest_right : TCN2
.Location : .
CytoBand : q12.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161992; dbVar:nssv15164031; dbVar:nssv15150031; dbVar:nssv16254742; dbVar:nssv15150491; dbVar:nssv15146973; dbVar:nssv15161990; dbVar:nssv15774756; dbVar:nssv15149512; nssv15150794; dbVar:nssv15146613; dbVar:nssv15147269; dbVar:nssv15128500; dbVar:nssv15132566; dbVar:nssv15135998; dbVar:nssv15154019; dbVar:nssv15134705; dbVar:nssv15142303; dbVar:nssv15132509; dbVar:nssv15141185; dbVar:nssv16208602
po_P_gain_coord : 22:16367191-50757300; 22:16367191-50772964; 22:16367191-50782474; 22:16367191-50785824; 22:16367191-50799035; 22:16367191-50799090; 22:16367191-50805007; 22:16408174-50759410; 22:16408175-50759410; 22:16916609-50739836; 22:16916744-50739785; 22:18145366-50806138; 22:18178958-31821193; 22:20907227-37187347; 22:22106345-34802241; 22:23279232-36247369; 22:23295721-36218366; 22:26979580-33992220; 22:27953867-32617076; 22:30258776-50759410
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15139891; dbVar:nssv15154010
po_P_loss_coord : 22:26451043-31451926; 22:29248637-30655732
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 22:30596679-30598399
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 22:30596679-30598399
Repeat_type_right : LTR12C
Gap_right : .
GC_content_right : 0.420
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>76613132>76613134ID : >76613132>76613134
CREF : C
CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATC[...]ALT : CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATCTGGTAGCAATGTGGAGAATCTTTATGTCTAGCTAAGGGATTGTGAATACACCAGTGGGCACTCTGTATCTAGCTCAAGGTTTGTAAATGCACCAATCAGCACCCTGTGTCTAGCTC
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>76613132>766131[...]INFO : AC=89; AF=1; AN=89; AT=>76613132>76613134,>76613132>76613133>76613134; LV=0; NS=45; e=30597450; s=160; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 160
splitAnnotation_mode : split
PES1Gene_name : PES1;
LOEUF_bin : 1
GnomAD_pLI : 7.1904e-01
ExAC_pLI : 6.5511e-01
HI : .
TS : .
DDD_HI_percent : 34.12
ACMG : .
ExAC_cnvZ : 1.51269056500574
ExAC_delZ : 1.0463917854169
ExAC_dupZ : 1.34830154957796
ExAC_synZ : 0.0440009621206941
ExAC_misZ : 0.646709555675726
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23481
intron2-intron2Location : intron2-intron2
CytoBand : q12.2
Location2 : 5'UTR
Tx : NM_001282327
Tx_version : 1
Tx_start : 30576624
Tx_end : 30607013
Exon_count : 17
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5051
Nearest_SS_type : 3'
Intersect_start : 30597449
Intersect_end : 30597450
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>76613132>76613134ID : >76613132>76613134
CREF : C
CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATC[...]ALT : CGGGGTTTGTGGATGCACCAATCGGCACTCTGTATCTGGCTAATCTGGTAGCAATGTGGAGAATCTTTATGTCTAGCTAAGGGATTGTGAATACACCAGTGGGCACTCTGTATCTAGCTCAAGGTTTGTAAATGCACCAATCAGCACCCTGTGTCTAGCTC
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>76613132>766131[...]INFO : AC=89; AF=1; AN=89; AT=>76613132>76613134,>76613132>76613133>76613134; LV=0; NS=45; e=30597450; s=160; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 291
Gene_count : 1
fullAnnotation_mode : full
MACROD2Gene_name : MACROD2;
LOEUF_bin : 2
GnomAD_pLI : 4.3472e-01
ExAC_pLI : 1.1357e-02
HI : .
TS : .
DDD_HI_percent : 1.49
ExAC_cnvZ : -0.692742758341261
ExAC_delZ : -1.18278709618643
ExAC_dupZ : -0.597815534527543
ExAC_synZ : 0.337580800459273
ExAC_misZ : 0.372539789325987
Closest_left : MACROD2-AS1
Closest_right : LOC613266
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15606079
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:11736178-19350411
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr20:14677820-15136935; chr20:14792038-15215728; chr20:14868497-15175922; chr20:14869088-15218497; chr20:14887414-15258760; chr20:14903118-15146085; chr20:14923608-15194779; chr20:14927205-15219198; chr20:14950413-15255019; chr20:14977746-15197765; chr20:15006063-15130589; chr20:15046370-15163731; chr20:15055540-15164070; chr20:15065174-15165016; chr20:15093012-15159337; chr20:15120132-15155311
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:14792038-15215728 dbVar; chr20:14869088-15218497 dbVar; chr20:14903118-15146085 dbVar; chr20:14927205-15219198 dbVar; chr20:14977746-15197765 dbVar; chr20:15046370-15163731 dbVar; chr20:15065174-15165016 dbVar; chr20:15120132-15155311 dbVar
po_B_loss_someG_coord : chr20:14677820-15136935 dbVar; chr20:14868497-15175922 dbVar; chr20:14887414-15258760 dbVar; chr20:14923608-15194779 dbVar; chr20:14950413-15255019 dbVar; chr20:15006063-15130589 dbVar; chr20:15055540-15164070 dbVar; chr20:15093012-15159337 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:15125689-15126399
Repeat_type_left : L1MB7
Gap_left : .
GC_content_left : 0.330
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:15125689-15126399
Repeat_type_right : L1MB7
Gap_right : .
GC_content_right : 0.325
CHM13,HG01071,HG01106,HG01123,HG01175,HG01978[...]Samples_ID : CHM13,HG01071,HG01106,HG01123,HG01175,HG01978,HG02148,NA20129
>72932926>72932928ID : >72932926>72932928
TREF : T
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG[...]ALT : TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGTCTGTTTTCT
60QUAL : 60
.FILTER : .
AC=8; AF=0.0898876; AN=89; AT=>72932926>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>72932926>72932928,>72932926<72932927>72932928; LV=0; NS=45; e=15125961; s=291; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|1HG01071 : 0|1
1|0HG01106 : 1|0
0|0HG01109 : 0|0
1|1HG01123 : 1|1
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
1|0HG01978 : 1|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 291
splitAnnotation_mode : split
MACROD2Gene_name : MACROD2;
LOEUF_bin : 2
GnomAD_pLI : 4.3472e-01
ExAC_pLI : 1.1357e-02
HI : .
TS : .
DDD_HI_percent : 1.49
ACMG : .
ExAC_cnvZ : -0.692742758341261
ExAC_delZ : -1.18278709618643
ExAC_dupZ : -0.597815534527543
ExAC_synZ : 0.337580800459273
ExAC_misZ : 0.372539789325987
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140733
intron5-intron5Location : intron5-intron5
CytoBand : p12.1
Location2 : CDS
Tx : NM_001351661
Tx_version : 2
Tx_start : 13995515
Tx_end : 16053197
Exon_count : 18
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 103978
Nearest_SS_type : 3'
Intersect_start : 15125960
Intersect_end : 15125961
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr20:14677820-15136935; chr20:14792038-15215728; chr20:14868497-15175922; chr20:14869088-15218497; chr20:14887414-15258760; chr20:14903118-15146085; chr20:14923608-15194779; chr20:14927205-15219198; chr20:14950413-15255019; chr20:14977746-15197765; chr20:15006063-15130589; chr20:15046370-15163731; chr20:15055540-15164070; chr20:15065174-15165016; chr20:15093012-15159337; chr20:15120132-15155311
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01071,HG01106,HG01123,HG01175,HG01978[...]Samples_ID : CHM13,HG01071,HG01106,HG01123,HG01175,HG01978,HG02148,NA20129
>72932926>72932928ID : >72932926>72932928
TREF : T
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG[...]ALT : TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGTCTGTTTTCT
60QUAL : 60
.FILTER : .
AC=8; AF=0.0898876; AN=89; AT=>72932926>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>72932926>72932928,>72932926<72932927>72932928; LV=0; NS=45; e=15125961; s=291; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|1HG01071 : 0|1
1|0HG01106 : 1|0
0|0HG01109 : 0|0
1|1HG01123 : 1|1
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
1|0HG01978 : 1|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 334
Gene_count : 1
fullAnnotation_mode : full
ANKFN1Gene_name : ANKFN1;
LOEUF_bin : 4
GnomAD_pLI : 2.0906e-10
ExAC_pLI : 4.0310e-06
HI : .
TS : .
DDD_HI_percent : 8.53
ExAC_cnvZ : 1.57613349745263
ExAC_delZ : 1.16927798497682
ExAC_dupZ : 1.32018461217587
ExAC_synZ : 0.359395492739693
ExAC_misZ : -0.11684939274523
Closest_left : LOC124904035
Closest_right : LOC112268194
.Location : .
CytoBand : q22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626; dbVar:nssv15149031; dbVar:nssv15150484
po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846; 17:50999620-60663584; 17:54111691-59399801
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15132970; dbVar:nssv16297148
po_P_loss_coord : 17:36382249-83103577; 17:49974534-56807609; 17:56212740-56767533
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.415
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.415
CHM13,NA20129Samples_ID : CHM13,NA20129
>66684236>66684238ID : >66684236>66684238
GREF : G
GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>66684236>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>66684236>66684238,>66684236>66684237>66684238; LV=0; NS=45; e=56462078; s=334; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 334
splitAnnotation_mode : split
ANKFN1Gene_name : ANKFN1;
LOEUF_bin : 4
GnomAD_pLI : 2.0906e-10
ExAC_pLI : 4.0310e-06
HI : .
TS : .
DDD_HI_percent : 8.53
ACMG : .
ExAC_cnvZ : 1.57613349745263
ExAC_delZ : 1.16927798497682
ExAC_dupZ : 1.32018461217587
ExAC_synZ : 0.359395492739693
ExAC_misZ : -0.11684939274523
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 162282
intron13-intron13Location : intron13-intron13
CytoBand : q22
Location2 : CDS
Tx : XM_047435502
Tx_version : 1
Tx_start : 56046076
Tx_end : 56517016
Exon_count : 20
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4098
Nearest_SS_type : 5'
Intersect_start : 56462077
Intersect_end : 56462078
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,NA20129Samples_ID : CHM13,NA20129
>66684236>66684238ID : >66684236>66684238
GREF : G
GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GTTGCTTTCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>66684236>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>66684236>66684238,>66684236>66684237>66684238; LV=0; NS=45; e=56462078; s=334; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 170
Gene_count : 1
fullAnnotation_mode : full
ZNF652Gene_name : ZNF652;
LOEUF_bin : 1
GnomAD_pLI : 8.2299e-01
ExAC_pLI : 9.7074e-01
HI : .
TS : .
DDD_HI_percent : 26.82
ExAC_cnvZ : 0.840702783377249
ExAC_delZ : 0.745565724270845
ExAC_dupZ : 0.596023125514471
ExAC_synZ : 0.00452544152229966
ExAC_misZ : 1.61823238212517
Closest_left : MIR6129
Closest_right : LOC124904111
.Location : .
CytoBand : q21.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626
po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15146046; dbVar:nssv15151905; dbVar:nssv15146525; dbVar:nssv15120738
po_P_loss_coord : 17:36382249-83103577; 17:47986887-49329397; 17:48403728-53319007; 17:48520886-49511208; 17:49137865-52147810
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 17:49320861-49321013; 17:49321044-49321219
Repeat_type_left : AluSx; MLT1I
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 17:49320861-49321013; 17:49321044-49321219
Repeat_type_right : AluSx; MLT1I
Gap_right : .
GC_content_right : 0.535
CHM13,HG03453,HG03540,NA21309Samples_ID : CHM13,HG03453,HG03540,NA21309
>66520653>66520655ID : >66520653>66520655
GREF : G
GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCAT[...]ALT : GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCATGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTG
60QUAL : 60
.FILTER : .
AC=3; AF=0.0337079; AN=89; AT=>66520653>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>66520653>66520655,>66520653<66520654>66520655; LV=0; NS=45; e=49320962; s=170; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
1|0NA21309 : 1|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 170
splitAnnotation_mode : split
ZNF652Gene_name : ZNF652;
LOEUF_bin : 1
GnomAD_pLI : 8.2299e-01
ExAC_pLI : 9.7074e-01
HI : .
TS : .
DDD_HI_percent : 26.82
ACMG : .
ExAC_cnvZ : 0.840702783377249
ExAC_delZ : 0.745565724270845
ExAC_dupZ : 0.596023125514471
ExAC_synZ : 0.00452544152229966
ExAC_misZ : 1.61823238212517
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22834
intron1-intron1Location : intron1-intron1
CytoBand : q21.33
Location2 : UTR
Tx : XR_934423
Tx_version : 3
Tx_start : 49288116
Tx_end : 49322508
Exon_count : 7
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1422
Nearest_SS_type : 5'
Intersect_start : 49320961
Intersect_end : 49320962
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG03453,HG03540,NA21309Samples_ID : CHM13,HG03453,HG03540,NA21309
>66520653>66520655ID : >66520653>66520655
GREF : G
GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCAT[...]ALT : GTCTCAGCCTCTGGAGTAGCTGGGGCCATAGGTGCATACCACCATGCCCAGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAACTCCGCCTCCCGGGTTCAAGCAATTCTCCTG
60QUAL : 60
.FILTER : .
AC=3; AF=0.0337079; AN=89; AT=>66520653>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>66520653>66520655,>66520653<66520654>66520655; LV=0; NS=45; e=49320962; s=170; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 314
Gene_count : 1
fullAnnotation_mode : full
ZNF287Gene_name : ZNF287;
LOEUF_bin : 1
GnomAD_pLI : 5.8262e-01
ExAC_pLI : 6.0866e-01
HI : .
TS : .
DDD_HI_percent : 58.74
ExAC_cnvZ : 0.13332005481667
ExAC_delZ : 0.78157074932864
ExAC_dupZ : -0.151957839418458
ExAC_synZ : -0.803851233767045
ExAC_misZ : 2.22969754584447
Closest_left : LOC105371554
Closest_right : ZNF624
.Location : .
CytoBand : p11.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15121114; dbVar:nssv17976715; dbVar:nssv15134920; dbVar:nssv15132415; dbVar:nssv15133505; dbVar:nssv15138295; dbVar:nssv15128226; dbVar:nssv15124254; dbVar:nssv15173356; dbVar:nssv15139336
po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:10892260-17964282; 17:11915998-17892664; 17:15210401-18280816; 17:15234686-20620700; 17:15259165-20925299; 17:15552363-19014200; 17:15809697-20678097; 17:15863707-20357937; 17:15892827-20427818; 17:16426634-20998588
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15137984; dbVar:nssv16208495; dbVar:nssv15139902; dbVar:nssv15132502; dbVar:nssv15140983; dbVar:nssv15139942; dbVar:nssv15127517; dbVar:nssv15137280; dbVar:nssv15138740; dbVar:nssv15132261; dbVar:nssv16254273; dbVar:nssv15121491; dbVar:nssv15121492
po_P_loss_coord : 17:15066800-17472457; 17:15729118-18823076; 17:15729894-20510251; 17:15776916-18771753; 17:15842002-20357878; 17:15850860-20649235; 17:15860439-20712095; 17:15883038-20620700; 17:15883038-20658018; 17:15898033-20620700; 17:15906702-18634123; 17:15952072-18362819; 17:16117886-18362819
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr17:15775685-16723886; chr17:16455941-16582580
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr17:16455941-16582580 dbVar
po_B_gain_someG_coord : chr17:15775685-16723886 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
CHM13,HG03516Samples_ID : CHM13,HG03516
>68308651>68308653ID : >68308651>68308653
TREF : T
TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTCAAAGTTT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>68308651>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68308651>68308653,>68308651<68308652>68308653; LV=0; NS=45; e=16563289; s=314; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 314
splitAnnotation_mode : split
ZNF287Gene_name : ZNF287;
LOEUF_bin : 1
GnomAD_pLI : 5.8262e-01
ExAC_pLI : 6.0866e-01
HI : .
TS : .
DDD_HI_percent : 58.74
ACMG : .
ExAC_cnvZ : 0.13332005481667
ExAC_delZ : 0.78157074932864
ExAC_dupZ : -0.151957839418458
ExAC_synZ : -0.803851233767045
ExAC_misZ : 2.22969754584447
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57336
intron4-intron4Location : intron4-intron4
CytoBand : p11.2
Location2 : CDS
Tx : NM_001346167
Tx_version : 2
Tx_start : 16546953
Tx_end : 16569204
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 56
Nearest_SS_type : 3'
Intersect_start : 16563288
Intersect_end : 16563289
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr17:15775685-16723886; chr17:16455941-16582580
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG03516Samples_ID : CHM13,HG03516
>68308651>68308653ID : >68308651>68308653
TREF : T
TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTCAAAGTTT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>68308651>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>68308651>68308653,>68308651<68308652>68308653; LV=0; NS=45; e=16563289; s=314; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 144
Gene_count : 1
fullAnnotation_mode : full
FOXN3Gene_name : FOXN3;
LOEUF_bin : 1
GnomAD_pLI : 9.3167e-01
ExAC_pLI : 9.0780e-01
HI : .
TS : .
DDD_HI_percent : 7.5
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.100677520849763
ExAC_misZ : 1.35210584128204
Closest_left : FOXN3-AS2
Closest_right : LOC105370617
.Location : .
CytoBand : q32.11
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
TTC8 (morbid/RE=GH_enhancer); RE_gene : TTC8 (morbid/RE=GH_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv17976728; dbVar:nssv15161689; dbVar:nssv15161760; dbVar:nssv15161081; dbVar:nssv18329607; dbVar:nssv18330720; dbVar:nssv15161039
po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20043515-106877229; 14:20151150-106855263; 14:37201854-106530013; 14:73284034-106877229; 14:73655773-106879298; 14:77222796-106879298; 14:81127365-96592939; 14:84071159-106877229; 14:86094031-106832642
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15154706; dbVar:nssv16206456; dbVar:nssv17969653; dbVar:nssv18830720
po_P_loss_coord : 14:84316794-96441861; 14:84317180-96441153; 14:87879282-94140555; 14:87934733-94140555
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr14:89412507-89616461
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr14_aa7bf92b
B_loss_coord : chr14:56471274-99420950
B_loss_AFmax : 0.6330
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr14:89412507-89616461 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr14:56471274-99420950 gnomAD-SV_v3_DEL_chr14_aa7bf92b
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 14:89607984-89608295; 14:89608296-89608439
Repeat_type_left : AluY; AluSc
Gap_left : .
GC_content_left : 0.570
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 14:89607984-89608295; 14:89608296-89608439
Repeat_type_right : AluY; AluSc
Gap_right : .
GC_content_right : 0.565
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02622,HG02630,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129
>59218275>59218277ID : >59218275>59218277
GREF : G
GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGG[...]ALT : GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACACCCAG
60QUAL : 60
.FILTER : .
AC=70; AF=0.786517; AN=89; AT=>59218275>[...]INFO : AC=70; AF=0.786517; AN=89; AT=>59218275>59218277,>59218275>59218276>59218277; LV=0; NS=45; e=89608304; s=144; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|0HG02055 : 1|0
1|1HG02080 : 1|1
1|0HG02109 : 1|0
1|0HG02145 : 1|0
1|1HG02148 : 1|1
0|1HG02257 : 0|1
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
1|1HG02630 : 1|1
0|0HG02717 : 0|0
1|0HG02723 : 1|0
1|1HG02818 : 1|1
0|1HG02886 : 0|1
1|0HG03098 : 1|0
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
0|1NA18906 : 0|1
1|1NA20129 : 1|1
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 144
splitAnnotation_mode : split
FOXN3Gene_name : FOXN3;
LOEUF_bin : 1
GnomAD_pLI : 9.3167e-01
ExAC_pLI : 9.0780e-01
HI : .
TS : .
DDD_HI_percent : 7.5
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.100677520849763
ExAC_misZ : 1.35210584128204
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1112
intron1-intron1Location : intron1-intron1
CytoBand : q32.11
Location2 : 5'UTR
Tx : NM_001085471
Tx_version : 2
Tx_start : 89156176
Tx_end : 89619165
Exon_count : 7
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 10723
Nearest_SS_type : 5'
Intersect_start : 89608303
Intersect_end : 89608304
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr14:89412507-89616461
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr14_aa7bf92b
B_loss_coord : chr14:56471274-99420950
B_loss_AFmax : 0.6330
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02622,HG02630,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129
>59218275>59218277ID : >59218275>59218277
GREF : G
GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGG[...]ALT : GATAATTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACACCCAG
60QUAL : 60
.FILTER : .
AC=70; AF=0.786517; AN=89; AT=>59218275>[...]INFO : AC=70; AF=0.786517; AN=89; AT=>59218275>59218277,>59218275>59218276>59218277; LV=0; NS=45; e=89608304; s=144; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|0HG02055 : 1|0
1|1HG02080 : 1|1
1|0HG02109 : 1|0
1|0HG02145 : 1|0
1|1HG02148 : 1|1
0|1HG02257 : 0|1
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
1|1HG02630 : 1|1
0|0HG02717 : 0|0
1|0HG02723 : 1|0
1|1HG02818 : 1|1
0|1HG02886 : 0|1
1|0HG03098 : 1|0
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
0|1NA18906 : 0|1
1|1NA20129 : 1|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 293
Gene_count : 1
fullAnnotation_mode : full
SRP54-AS1Gene_name : SRP54-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : BAZ1A-AS1
Closest_right : IGBP1P1
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PPP2R3C (morbid/RE=EA_enhancer); NFKBIA (morb[...]RE_gene : PPP2R3C (morbid/RE=EA_enhancer); NFKBIA (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15146564; dbVar:nssv15146758; dbVar:nssv16207193; dbVar:nssv17976958; dbVar:nssv15148269; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv15146403
po_P_gain_coord : 14:18223946-106880863; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:20000612-38984415; 14:20022694-44093672; 14:20043514-44359827; 14:20043514-47012000; 14:20043514-48642042; 14:20043515-106877229; 14:20151150-106855263; 14:30670315-44990595
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15145699; dbVar:nssv17976070; dbVar:nssv15145700; dbVar:nssv15148040; dbVar:nssv15146746; dbVar:nssv16867366; dbVar:nssv15125670; dbVar:nssv15148193; dbVar:nssv18786359
po_P_loss_coord : 14:20196946-45284802; 14:20694105-50246884; 14:23548961-41983402; 14:30382555-37712341; 14:30792272-44685131; 14:33139720-44101164; 14:33579942-48879620; 14:33880413-42359485; 14:34435202-36314930
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr14:34815777-34933122
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr14:34815777-34933122 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 14:34928026-34928179; 14:34928259-34928382
Repeat_type_left : L1ME3A; L1MD2
Gap_left : .
GC_content_left : 0.315
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 14:34928026-34928179; 14:34928259-34928382
Repeat_type_right : L1ME3A; L1MD2
Gap_right : .
GC_content_right : 0.310
CHM13,HG01175Samples_ID : CHM13,HG01175
>59895093>59895091ID : >59895093>59895091
TREF : T
TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAA[...]ALT : TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>59895093>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>59895093>59895091,>59895093<59895092>59895091; CONFLICT=HG01243; LV=0; NS=45; e=34928178; s=293; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
1|0HG01175 : 1|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 293
splitAnnotation_mode : split
SRP54-AS1Gene_name : SRP54-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100506157
intron2-intron2Location : intron2-intron2
CytoBand : q13.2
Location2 : UTR
Tx : NR_151701
Tx_version : 1
Tx_start : 34916479
Tx_end : 34982566
Exon_count : 5
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6464
Nearest_SS_type : 3'
Intersect_start : 34928177
Intersect_end : 34928178
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr14:34815777-34933122
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01175Samples_ID : CHM13,HG01175
>59895093>59895091ID : >59895093>59895091
TREF : T
TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAA[...]ALT : TACCATGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>59895093>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>59895093>59895091,>59895093<59895092>59895091; CONFLICT=HG01243; LV=0; NS=45; e=34928178; s=293; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
1|0HG01175 : 1|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 119
Gene_count : 1
fullAnnotation_mode : full
LOC101927045Gene_name : LOC101927045;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SDR39U1
Closest_right : CMA1
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162475; dbVar:nssv15606090; dbVar:nssv15161908; dbVar:nssv15162476; dbVar:nssv15161629; dbVar:nssv15139565; dbVar:nssv15141262; dbVar:nssv15146564; dbVar:nssv15146758; dbVar:nssv16207193; dbVar:nssv17976958; dbVar:nssv15148269; dbVar:nssv15161107; nssv15161424; dbVar:nssv15161067; dbVar:nssv15134537
po_P_gain_coord : 14:18223946-106880863; 14:18324206-28260881; 14:18504257-106879456; 14:18551347-106879456; 14:19652446-106826050; 14:19652446-27299048; 14:19652446-33580008; 14:20000612-38984415; 14:20022694-44093672; 14:20043514-44359827; 14:20043514-47012000; 14:20043514-48642042; 14:20043515-106877229; 14:20151150-106855263; 14:20412588-25018120
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15145699; dbVar:nssv17976070; dbVar:nssv15145700; dbVar:nssv15142442; dbVar:nssv15139177
po_P_loss_coord : 14:20196946-45284802; 14:20694105-50246884; 14:23548961-41983402; 14:23864183-30907877; 14:23984066-25374494
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr14:24444462-24552552
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr14:24444462-24552552 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 14:24472966-24474524
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 14:24472966-24474524
Repeat_type_right : LTR12C
Gap_right : .
GC_content_right : 0.455
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02257,HG02559,HG02572,HG02622,HG02717,HG02723,HG03098,HG03486,HG03492,HG03540,NA18906,NA20129,NA21309
>60146780>60146777ID : >60146780>60146777
CREF : C
CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCG[...]ALT : CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCGAGGTTTGTAAATGCACCAATCAGCACTCTCTACCTAGCTAATCTGGTGGGGACTTGGAGAACTTTTATGTCTAGC
60QUAL : 60
.FILTER : .
AC=60; AF=0.674157; AN=89; AT=>60146780>[...]INFO : AC=60; AF=0.674157; AN=89; AT=>60146780>60146777,>60146780>60146779>60146778>60146777; LV=0; NS=45; e=24473766; s=119; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|0HG01243 : 1|0
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|0HG02055 : 0|0
1|1HG02080 : 1|1
1|1HG02109 : 1|1
0|1HG02145 : 0|1
1|1HG02148 : 1|1
0|1HG02257 : 0|1
0|0HG02486 : 0|0
1|0HG02559 : 1|0
1|1HG02572 : 1|1
1|1HG02622 : 1|1
0|0HG02630 : 0|0
0|1HG02717 : 0|1
1|1HG02723 : 1|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
1|1HG03098 : 1|1
0|0HG03453 : 0|0
1|0HG03486 : 1|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
0|1NA20129 : 0|1
1|0NA21309 : 1|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 119
splitAnnotation_mode : split
LOC101927045Gene_name : LOC101927045;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : q12
Location2 : UTR
Tx : NR_110032
Tx_version : 1
Tx_start : 24442952
Tx_end : 24502197
Exon_count : 3
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 27793
Nearest_SS_type : 3'
Intersect_start : 24473765
Intersect_end : 24473766
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr14:24444462-24552552
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02257,HG02559,HG02572,HG02622,HG02717,HG02723,HG03098,HG03486,HG03492,HG03540,NA18906,NA20129,NA21309
>60146780>60146777ID : >60146780>60146777
CREF : C
CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCG[...]ALT : CTAAGGGATTGTAAATAAACCAATCAGCAATCTGTGTCTAGCTCGAGGTTTGTAAATGCACCAATCAGCACTCTCTACCTAGCTAATCTGGTGGGGACTTGGAGAACTTTTATGTCTAGC
60QUAL : 60
.FILTER : .
AC=60; AF=0.674157; AN=89; AT=>60146780>[...]INFO : AC=60; AF=0.674157; AN=89; AT=>60146780>60146777,>60146780>60146779>60146778>60146777; LV=0; NS=45; e=24473766; s=119; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|0HG01243 : 1|0
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|0HG02055 : 0|0
1|1HG02080 : 1|1
1|1HG02109 : 1|1
0|1HG02145 : 0|1
1|1HG02148 : 1|1
0|1HG02257 : 0|1
0|0HG02486 : 0|0
1|0HG02559 : 1|0
1|1HG02572 : 1|1
1|1HG02622 : 1|1
0|0HG02630 : 0|0
0|1HG02717 : 0|1
1|1HG02723 : 1|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
1|1HG03098 : 1|1
0|0HG03453 : 0|0
1|0HG03486 : 1|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
0|1NA20129 : 0|1
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 311
Gene_count : 1
fullAnnotation_mode : full
KLF12Gene_name : KLF12;
LOEUF_bin : 1
GnomAD_pLI : 9.8067e-01
ExAC_pLI : 9.8223e-01
HI : .
TS : .
DDD_HI_percent : 4.25
ExAC_cnvZ : 0.773237580984966
ExAC_delZ : 0.69275050605321
ExAC_dupZ : 0.528687297340572
ExAC_synZ : -0.686558897374254
ExAC_misZ : 1.87712817813369
Closest_left : LOC124903182
Closest_right : LINC00402
.Location : .
CytoBand : q22.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17955548; nssv17976992; dbVar:nssv15161090; dbVar:nssv15172692; dbVar:nssv17059476; dbVar:nssv15162474; dbVar:nssv15161751; dbVar:nssv18326470; dbVar:nssv15161513; dbVar:nssv17969571; dbVar:nssv15161108; nssv15776345; nssv17957159; nssv17969572; dbVar:nssv15161661; nssv15161681; dbVar:nssv15161295; dbVar:nssv15161646; dbVar:nssv15161837; dbVar:nssv15161365; dbVar:nssv15161763; dbVar:nssv15161793; dbVar:nssv15161296; nssv15161378; dbVar:nssv15161514; dbVar:nssv15161263; nssv15161581; dbVar:nssv15161082; dbVar:nssv15161297; dbVar:nssv15161759; dbVar:nssv17956080; dbVar:nssv15161298; dbVar:nssv15161752; dbVar:nssv15161430; dbVar:nssv15161415; dbVar:nssv17969599; dbVar:nssv15772623; dbVar:nssv15142163; dbVar:nssv15161659
po_P_gain_coord : 13:18445863-114344403; 13:18456041-114340285; 13:18457098-114341682; 13:18479466-114343053; 13:18484578-114338054; 13:18565049-114327173; 13:18679709-114343462; 13:18850546-114327173; 13:18862147-114216251; 13:18862147-114342258; 13:18862148-114342258; 13:18946183-114304628; 13:18997364-114327035; 13:18997364-114327094; 13:19671935-114340331; 13:19833131-114298614; 13:19833131-114327106; 13:19837396-114327173; 13:30318914-83610426; 13:31363473-90575292; 13:32531487-86757044; 13:33528098-114327173; 13:41288494-85137552; 13:41930405-107553921; 13:44164752-114327173; 13:44733047-114327173; 13:53358224-95934109; 13:55857610-114342258; 13:60850035-114342258; 13:61201434-114342258; 13:68050299-114327173; 13:71297337-114342258
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161772; dbVar:nssv17969588; dbVar:nssv15161334; dbVar:nssv15161071; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv15161906; dbVar:nssv15161779; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647; dbVar:nssv15172817; dbVar:nssv17957149; dbVar:nssv15161766; dbVar:nssv17969600; dbVar:nssv15161351; dbVar:nssv15161314; dbVar:nssv16208368; dbVar:nssv15161128; dbVar:nssv15161639; dbVar:nssv15161336; dbVar:nssv15161434
po_P_loss_coord : 13:18445863-114327173; 13:35802068-80107618; 13:40942299-114340331; 13:41143821-85137552; 13:41883706-91144444; 13:44967524-92738168; 13:46968081-87381985; 13:47117588-84300935; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303; 13:56484301-94032361; 13:59000627-88757773; 13:60536345-84553188; 13:61112410-82727957; 13:63713366-79638415; 13:66320999-87855429; 13:70928226-85997595; 13:71439660-87369304; 13:71600611-81647226; 13:72681541-79638468; 13:73885259-92829041
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 13:74095391-74095688
Repeat_type_left : AluJo
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 13:74095391-74095688
Repeat_type_right : AluJo
Gap_right : .
GC_content_right : 0.380
CHM13Samples_ID : CHM13
>57644512>57644514ID : >57644512>57644514
AREF : A
AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG[...]ALT : AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>57644512>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>57644512>57644514,>57644512>57644513>57644514; LV=0; NS=45; e=74095373; s=311; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 311
splitAnnotation_mode : split
KLF12Gene_name : KLF12;
LOEUF_bin : 1
GnomAD_pLI : 9.8067e-01
ExAC_pLI : 9.8223e-01
HI : .
TS : .
DDD_HI_percent : 4.25
ACMG : .
ExAC_cnvZ : 0.773237580984966
ExAC_delZ : 0.69275050605321
ExAC_dupZ : 0.528687297340572
ExAC_synZ : -0.686558897374254
ExAC_misZ : 1.87712817813369
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11278
intron1-intron1Location : intron1-intron1
CytoBand : q22.1
Location2 : 5'UTR
Tx : NM_001400146
Tx_version : 1
Tx_start : 73686088
Tx_end : 74133929
Exon_count : 9
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 38365
Nearest_SS_type : 5'
Intersect_start : 74095372
Intersect_end : 74095373
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13Samples_ID : CHM13
>57644512>57644514ID : >57644512>57644514
AREF : A
AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG[...]ALT : AGTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>57644512>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>57644512>57644514,>57644512>57644513>57644514; LV=0; NS=45; e=74095373; s=311; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 161
Gene_count : 1
fullAnnotation_mode : full
TMBIM4Gene_name : TMBIM4;
LOEUF_bin : 8
GnomAD_pLI : 3.8876e-06
ExAC_pLI : 2.0800e-03
HI : .
TS : .
DDD_HI_percent : 43.64
ExAC_cnvZ : -1.23087798328857
ExAC_delZ : -1.70590570872777
ExAC_dupZ : -0.923006534527363
ExAC_synZ : 0.846526367035289
ExAC_misZ : 0.132998332375928
Closest_left : LLPH-DT
Closest_right : IRAK3
.Location : .
CytoBand : q14.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136921; dbVar:nssv18786358; dbVar:nssv17649865; dbVar:nssv15146017; dbVar:nssv17956173; dbVar:nssv15774873
po_P_loss_coord : 12:60907152-66568077; 12:64215679-69958323; 12:64857926-74869599; 12:65445177-71026337; 12:65651866-68478563; 12:65806998-66181477
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr12:66130674-66161690
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr12:66130674-66161690 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:66160760-66161117
Repeat_type_left : SVA_F
Gap_left : .
GC_content_left : 0.650
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 12:66160760-66161117
Repeat_type_right : SVA_F
Gap_right : .
GC_content_right : 0.645
CHM13,HG00438,HG00621,HG00673,HG00733,HG02080[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG02080,HG03453
>53787129>53787131ID : >53787129>53787131
GREF : G
GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTG[...]ALT : GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTGGGCAGAGGCCCTCATCACTTCCCAGACGATGCGCGGGGCCGGGCAGAGGCGCTGCTCACTTCCCAGACGGGGCGGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGTCAGTTGGGCA
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>53787129>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>53787129>53787131,>53787129<53787130>53787131; LV=0; NS=45; e=66161044; s=161; rC=Retroposon/SVA
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|1HG00621 : 1|1
0|1HG00673 : 0|1
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
1|1HG02080 : 1|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 161
splitAnnotation_mode : split
TMBIM4Gene_name : TMBIM4;
LOEUF_bin : 8
GnomAD_pLI : 3.8876e-06
ExAC_pLI : 2.0800e-03
HI : .
TS : .
DDD_HI_percent : 43.64
ACMG : .
ExAC_cnvZ : -1.23087798328857
ExAC_delZ : -1.70590570872777
ExAC_dupZ : -0.923006534527363
ExAC_synZ : 0.846526367035289
ExAC_misZ : 0.132998332375928
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51643
intron1-intron1Location : intron1-intron1
CytoBand : q14.3
Location2 : CDS
Tx : NM_001282606
Tx_version : 2
Tx_start : 66135845
Tx_end : 66169996
Exon_count : 8
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 738
Nearest_SS_type : 3'
Intersect_start : 66161043
Intersect_end : 66161044
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr12:66130674-66161690
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG02080[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG02080,HG03453
>53787129>53787131ID : >53787129>53787131
GREF : G
GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTG[...]ALT : GGCCGGGCAGAGGAACTCCTCACTTCCCAGACAGGGCAGCGGCTGGGCAGAGGCCCTCATCACTTCCCAGACGATGCGCGGGGCCGGGCAGAGGCGCTGCTCACTTCCCAGACGGGGCGGCGGCCAGGCAGAGGCGCTCCTCACATCCCAGTCAGTTGGGCA
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>53787129>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>53787129>53787131,>53787129<53787130>53787131; LV=0; NS=45; e=66161044; s=161; rC=Retroposon/SVA
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|1HG00621 : 1|1
0|1HG00673 : 0|1
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
1|1HG02080 : 1|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 277
Gene_count : 1
fullAnnotation_mode : full
LINC03056Gene_name : LINC03056;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : AVPR1A
Closest_right : LOC105369797
.Location : .
CytoBand : q14.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136921
po_P_loss_coord : 12:60907152-66568077
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:63322254-63322433
Repeat_type_left : MER3
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 12:63322254-63322433
Repeat_type_right : MER3
Gap_right : .
GC_content_right : 0.335
CHM13,HG01358Samples_ID : CHM13,HG01358
>53725454>53725456ID : >53725454>53725456
TREF : T
TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAAT[...]ALT : TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>53725454>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53725454>53725456,>53725454<53725455>53725456; LV=0; NS=45; e=63322316; s=277; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|1HG01358 : 0|1
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 277
splitAnnotation_mode : split
LINC03056Gene_name : LINC03056;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 124902951
intron1-intron1Location : intron1-intron1
CytoBand : q14.2
Location2 : UTR
Tx : XR_007063344
Tx_version : 1
Tx_start : 63283235
Tx_end : 63360071
Exon_count : 3
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 29379
Nearest_SS_type : 3'
Intersect_start : 63322315
Intersect_end : 63322316
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01358Samples_ID : CHM13,HG01358
>53725454>53725456ID : >53725454>53725456
TREF : T
TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAAT[...]ALT : TTCGGTTCCTCCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>53725454>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53725454>53725456,>53725454<53725455>53725456; LV=0; NS=45; e=63322316; s=277; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|1HG01358 : 0|1
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 314
Gene_count : 1
fullAnnotation_mode : full
LRIG3-DTGene_name : LRIG3-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LRIG3
Closest_right : LINC02448
.Location : .
CytoBand : q14.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15133179; dbVar:nssv15133180
po_P_loss_coord : 12:57013356-63042498; 12:57041159-60273934
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.270
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.270
CHM13,HG01358,HG01928,HG01952,HG01978,HG02148Samples_ID : CHM13,HG01358,HG01928,HG01952,HG01978,HG02148
>53621848>53621850ID : >53621848>53621850
TREF : T
TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT[...]ALT : TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAACAT
60QUAL : 60
.FILTER : .
AC=7; AF=0.0786517; AN=89; AT=>53621848>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>53621848>53621850,>53621848<53621849>53621850; LV=0; NS=45; e=59016365; s=314; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|1HG01358 : 0|1
0|0HG01361 : 0|0
0|0HG01891 : 0|0
1|0HG01928 : 1|0
1|1HG01952 : 1|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 314
splitAnnotation_mode : split
LRIG3-DTGene_name : LRIG3-DT;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105369791
intron2-intron2Location : intron2-intron2
CytoBand : q14.1
Location2 : UTR
Tx : NR_183518
Tx_version : 1
Tx_start : 58920703
Tx_end : 59130875
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 39640
Nearest_SS_type : 3'
Intersect_start : 59016364
Intersect_end : 59016365
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01358,HG01928,HG01952,HG01978,HG02148Samples_ID : CHM13,HG01358,HG01928,HG01952,HG01978,HG02148
>53621848>53621850ID : >53621848>53621850
TREF : T
TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT[...]ALT : TTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAACAT
60QUAL : 60
.FILTER : .
AC=7; AF=0.0786517; AN=89; AT=>53621848>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>53621848>53621850,>53621848<53621849>53621850; LV=0; NS=45; e=59016365; s=314; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|1HG01358 : 0|1
0|0HG01361 : 0|0
0|0HG01891 : 0|0
1|0HG01928 : 1|0
1|1HG01952 : 1|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 138
Gene_count : 1
fullAnnotation_mode : full
LINC02762Gene_name : LINC02762;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC100132686
Closest_right : LOC107984388
.Location : .
CytoBand : q23.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287
po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7[...]B_gain_source : CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7853; IMH; dbVar; gnomAD-SV_v3_DUP_chr11_2efbe32f
B_gain_coord : chr11:111993221-112429219; chr11:112331777-112331922; 11:112331777-112331931; 11:112331794-112331929; chr11:112331794-112331929
B_gain_AFmax : 0.5279
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr11:112331777-112331922 gnomAD-SV_v3_DUP_chr11_2efbe32f; 11:112331794-112331929 CMRI:4_pbsv.INS.DUP.2168;
po_B_gain_someG_coord : chr11:111993221-112429219 dbVar; 11:112331777-112331931 IMH; chr11:112331794-112331929 HPRC:pbsv.INS.DUP.7853
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:112331698-112331992; 11:112331993-112332061
Repeat_type_left : AluSz; MER92B
Gap_left : .
GC_content_left : 0.510
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:112331698-112331992; 11:112331993-112332061
Repeat_type_right : AluSz; MER92B
Gap_right : .
GC_content_right : 0.510
CHM13,HG00438,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00438,HG00733,HG00735,HG00741,HG01106,HG01109,HG01175,HG01258,HG01358,HG01361,HG02080,HG02148,NA20129,NA21309
>50220480>50220482ID : >50220480>50220482
GREF : G
GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATT[...]ALT : GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATTACAGGTATGCACCACCACACCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCCAGGCTGGTCTCGAACTCCTGG
60QUAL : 60
.FILTER : .
AC=15; AF=0.168539; AN=89; AT=>50220480>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>50220480>50220482,>50220480<50220481>50220482; LV=0; NS=45; e=112331922; s=138; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|1HG00438 : 0|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|1HG00735 : 0|1
1|0HG00741 : 1|0
0|0HG01071 : 0|0
1|0HG01106 : 1|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
1|0HG01175 : 1|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|1HG01358 : 0|1
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
1|0NA21309 : 1|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 138
splitAnnotation_mode : split
LINC02762Gene_name : LINC02762;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 283140
intron2-intron2Location : intron2-intron2
CytoBand : q23.1
Location2 : UTR
Tx : NR_126004
Tx_version : 1
Tx_start : 112270748
Tx_end : 112362534
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 26180
Nearest_SS_type : 3'
Intersect_start : 112331921
Intersect_end : 112331922
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7[...]B_gain_source : CMRI:4_pbsv.INS.DUP.2168; HPRC:pbsv.INS.DUP.7853; IMH; dbVar; gnomAD-SV_v3_DUP_chr11_2efbe32f
B_gain_coord : chr11:111993221-112429219; chr11:112331777-112331922; 11:112331777-112331931; 11:112331794-112331929; chr11:112331794-112331929
B_gain_AFmax : 0.5279
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00733,HG00735,HG00741,HG01106[...]Samples_ID : CHM13,HG00438,HG00733,HG00735,HG00741,HG01106,HG01109,HG01175,HG01258,HG01358,HG01361,HG02080,HG02148,NA20129,NA21309
>50220480>50220482ID : >50220480>50220482
GREF : G
GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATT[...]ALT : GGTTCAAGTTATTCTCCTGCTTCAGCCTCCTGGATAGCTGGGATTACAGGTATGCACCACCACACCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCCAGGCTGGTCTCGAACTCCTGG
60QUAL : 60
.FILTER : .
AC=15; AF=0.168539; AN=89; AT=>50220480>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>50220480>50220482,>50220480<50220481>50220482; LV=0; NS=45; e=112331922; s=138; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|1HG00438 : 0|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|1HG00735 : 0|1
1|0HG00741 : 1|0
0|0HG01071 : 0|0
1|0HG01106 : 1|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
1|0HG01175 : 1|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|1HG01358 : 0|1
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 906
Gene_count : 1
fullAnnotation_mode : full
BCO2Gene_name : BCO2;
LOEUF_bin : 7
GnomAD_pLI : 3.7829e-18
ExAC_pLI : 1.8316e-13
HI : .
TS : .
DDD_HI_percent : 52.89
ExAC_cnvZ : -0.925606711862513
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.856263314015538
ExAC_synZ : -0.481056267279244
ExAC_misZ : -0.834475347941361
Closest_left : TEX12
Closest_right : PTS
.Location : .
CytoBand : q23.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287
po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr11:111993221-112429219
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr11:112174947-112213940
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr11:111993221-112429219 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr11:112174947-112213940 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:112208262-112208560
Repeat_type_left : L1MEg
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:112208262-112208560
Repeat_type_right : L1MEg
Gap_right : .
GC_content_right : 0.310
CHM13,HG01109Samples_ID : CHM13,HG01109
>50217561>50217565ID : >50217561>50217565
TTTREF : TTT
TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTT[...]ALT : TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTTGACGTTGTTTTCTTTTTTTTTTTTTTTAATTTTTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGAAGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCTT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>50217561>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50217561>50217564>50217565,>50217561>50217562<50217563>50217564>50217565; LV=0; NS=45; e=112208432; s=908; rC=Retroposon/SVA
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 906
splitAnnotation_mode : split
BCO2Gene_name : BCO2;
LOEUF_bin : 7
GnomAD_pLI : 3.7829e-18
ExAC_pLI : 1.8316e-13
HI : .
TS : .
DDD_HI_percent : 52.89
ACMG : .
ExAC_cnvZ : -0.925606711862513
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.856263314015538
ExAC_synZ : -0.481056267279244
ExAC_misZ : -0.834475347941361
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 83875
intron6-intron6Location : intron6-intron6
CytoBand : q23.1
Location2 : CDS
Tx : NM_001256398
Tx_version : 3
Tx_start : 112175511
Tx_end : 112218946
Exon_count : 10
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5293
Nearest_SS_type : 3'
Intersect_start : 112208429
Intersect_end : 112208430
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr11:111993221-112429219
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr11:112174947-112213940
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01109Samples_ID : CHM13,HG01109
>50217561>50217565ID : >50217561>50217565
TTTREF : TTT
TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTT[...]ALT : TTTTTTTTTTTTTTTTAGGGGTGAAAATGAGAAAGGATTTATTTTGACGTTGTTTTCTTTTTTTTTTTTTTTAATTTTTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGAAGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCTT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>50217561>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50217561>50217564>50217565,>50217561>50217562<50217563>50217564>50217565; LV=0; NS=45; e=112208432; s=908; rC=Retroposon/SVA
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 266
Gene_count : 1
fullAnnotation_mode : full
DIXDC1Gene_name : DIXDC1;
LOEUF_bin : 4
GnomAD_pLI : 7.3213e-11
ExAC_pLI : 4.2687e-06
HI : .
TS : .
DDD_HI_percent : 25.81
ExAC_cnvZ : 0.735797221671781
ExAC_delZ : -0.303944958636362
ExAC_dupZ : 1.40626150213621
ExAC_synZ : 0.83904895490743
ExAC_misZ : 0.35499771702407
Closest_left : C11orf52
Closest_right : DLAT
.Location : .
CytoBand : q23.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
DLAT (morbid/RE=EA_enhancer); PTS (morbid/RE=[...]RE_gene : DLAT (morbid/RE=EA_enhancer); PTS (morbid/RE=EA_enhancer); ALG9 (morbid/RE=EA_enhancer); CRYAB (morbid/RE=EA_enhancer); SDHD (HI=3/morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv17173306; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287; dbVar:nssv18789545; dbVar:nssv18789543; dbVar:nssv16213755; dbVar:nssv18787705
po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:94420120-112094976; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249; 11:111300985-112087983; 11:111300985-112089021; 11:111300985-112094970; 11:111786398-112051369
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.390
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
CHM13,HG00733Samples_ID : CHM13,HG00733
>50212829>50212831ID : >50212829>50212831
CREF : C
CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCT[...]ALT : CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATAGGCC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>50212829>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50212829>50212831,>50212829>50212830>50212831; LV=0; NS=45; e=111981080; s=266; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 266
splitAnnotation_mode : split
DIXDC1Gene_name : DIXDC1;
LOEUF_bin : 4
GnomAD_pLI : 7.3213e-11
ExAC_pLI : 4.2687e-06
HI : .
TS : .
DDD_HI_percent : 25.81
ACMG : .
ExAC_cnvZ : 0.735797221671781
ExAC_delZ : -0.303944958636362
ExAC_dupZ : 1.40626150213621
ExAC_synZ : 0.83904895490743
ExAC_misZ : 0.35499771702407
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 85458
intron7-intron7Location : intron7-intron7
CytoBand : q23.1
Location2 : CDS
Tx : XM_017018466
Tx_version : 3
Tx_start : 111927314
Tx_end : 112022653
Exon_count : 21
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 230
Nearest_SS_type : 5'
Intersect_start : 111981079
Intersect_end : 111981080
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00733Samples_ID : CHM13,HG00733
>50212829>50212831ID : >50212829>50212831
CREF : C
CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCT[...]ALT : CCTTTCTCCGGATCACGAGGTCAGGATATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATAGGCC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>50212829>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>50212829>50212831,>50212829>50212830>50212831; LV=0; NS=45; e=111981080; s=266; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 218
Gene_count : 1
fullAnnotation_mode : full
INCENPGene_name : INCENP;
LOEUF_bin : 1
GnomAD_pLI : 8.8595e-01
ExAC_pLI : 9.9609e-01
HI : .
TS : .
DDD_HI_percent : 62.6
ExAC_cnvZ : 1.05134189077339
ExAC_delZ : 0.9006964469995
ExAC_dupZ : 0.822134462816166
ExAC_synZ : -0.409229307217501
ExAC_misZ : 1.03997746568967
Closest_left : LOC124902681
Closest_right : SCGB1D1
.Location : .
CytoBand : q12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15155374
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:59167743-62410184
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15150928
po_P_loss_coord : 11:11814023-118502397; 11:62073526-63219858
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DUP_chr11_c39f8718B_gain_source : gnomAD-SV_v3_DUP_chr11_c39f8718
B_gain_coord : chr11:62143070-62143199
B_gain_AFmax : 0.2291
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr11:62143070-62143199 gnomAD-SV_v3_DUP_chr11_c39f8718
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:62142547-62143638
Repeat_type_left : L1MD2
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:62142547-62143638
Repeat_type_right : L1MD2
Gap_right : .
GC_content_right : 0.545
CHM13,HG00621,HG00673,HG00733,HG00735,HG01071[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00735,HG01071,HG01106,HG01109,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02055,HG02109,HG02145,HG02148,HG02559,HG02886,HG03453,HG03492
>52023432>52023430ID : >52023432>52023430
CREF : C
CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGG[...]ALT : CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCC
60QUAL : 60
.FILTER : .
AC=28; AF=0.314607; AN=89; AT=>52023432>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>52023432>52023430,>52023432>52023431>52023430; LV=0; NS=45; e=62143188; s=218; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
1|1HG00621 : 1|1
1|0HG00673 : 1|0
1|1HG00733 : 1|1
0|1HG00735 : 0|1
0|0HG00741 : 0|0
1|1HG01071 : 1|1
1|0HG01106 : 1|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|1HG02055 : 0|1
0|0HG02080 : 0|0
1|0HG02109 : 1|0
1|0HG02145 : 1|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
1|0HG02886 : 1|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 218
splitAnnotation_mode : split
INCENPGene_name : INCENP;
LOEUF_bin : 1
GnomAD_pLI : 8.8595e-01
ExAC_pLI : 9.9609e-01
HI : .
TS : .
DDD_HI_percent : 62.6
ACMG : .
ExAC_cnvZ : 1.05134189077339
ExAC_delZ : 0.9006964469995
ExAC_dupZ : 0.822134462816166
ExAC_synZ : -0.409229307217501
ExAC_misZ : 1.03997746568967
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3619
intron11-intron11Location : intron11-intron11
CytoBand : q12.3
Location2 : CDS
Tx : NM_001040694
Tx_version : 2
Tx_start : 62124010
Tx_end : 62153169
Exon_count : 19
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1676
Nearest_SS_type : 5'
Intersect_start : 62143187
Intersect_end : 62143188
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
gnomAD-SV_v3_DUP_chr11_c39f8718B_gain_source : gnomAD-SV_v3_DUP_chr11_c39f8718
B_gain_coord : chr11:62143070-62143199
B_gain_AFmax : 0.2291
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00621,HG00673,HG00733,HG00735,HG01071[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00735,HG01071,HG01106,HG01109,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02055,HG02109,HG02145,HG02148,HG02559,HG02886,HG03453,HG03492
>52023432>52023430ID : >52023432>52023430
CREF : C
CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGG[...]ALT : CTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCC
60QUAL : 60
.FILTER : .
AC=28; AF=0.314607; AN=89; AT=>52023432>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>52023432>52023430,>52023432>52023431>52023430; LV=0; NS=45; e=62143188; s=218; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
1|1HG00621 : 1|1
1|0HG00673 : 1|0
1|1HG00733 : 1|1
0|1HG00735 : 0|1
0|0HG00741 : 0|0
1|1HG01071 : 1|1
1|0HG01106 : 1|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|1HG02055 : 0|1
0|0HG02080 : 0|0
1|0HG02109 : 1|0
1|0HG02145 : 1|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
1|0HG02886 : 1|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 302
Gene_count : 1
fullAnnotation_mode : full
LOC101928563Gene_name : LOC101928563;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01493
Closest_right : LOC107984362
.Location : .
CytoBand : p12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15150227; dbVar:nssv15147690; dbVar:nssv15161504; dbVar:nssv15136152
po_P_loss_coord : 11:11814023-118502397; 11:27567014-41749242; 11:30593581-40584589; 11:35663579-46959820; 11:36007378-40318124
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr11:38831875-38940297; chr11:38867178-38896682
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr11:38867178-38896682 dbVar
po_B_loss_someG_coord : chr11:38831875-38940297 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:38872630-38872968
Repeat_type_left : L1PB4
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:38872630-38872968
Repeat_type_right : L1PB4
Gap_right : .
GC_content_right : 0.325
CHM13,HG02630,HG02886Samples_ID : CHM13,HG02630,HG02886
>49121519>49121521ID : >49121519>49121521
TREF : T
TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAGATAGCTT
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>49121519>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>49121519>49121521,>49121519<49121520>49121521; LV=0; NS=45; e=38872604; s=302; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
1|0HG02630 : 1|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 302
splitAnnotation_mode : split
LOC101928563Gene_name : LOC101928563;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron3-intron3Location : intron3-intron3
CytoBand : p12
Location2 : UTR
Tx : XR_001748189
Tx_version : 1
Tx_start : 38852800
Tx_end : 38886763
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2386
Nearest_SS_type : 3'
Intersect_start : 38872603
Intersect_end : 38872604
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr11:38831875-38940297; chr11:38867178-38896682
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02630,HG02886Samples_ID : CHM13,HG02630,HG02886
>49121519>49121521ID : >49121519>49121521
TREF : T
TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGAGATAGCTT
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>49121519>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>49121519>49121521,>49121519<49121520>49121521; LV=0; NS=45; e=38872604; s=302; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
1|0HG02630 : 1|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 292
Gene_count : 1
fullAnnotation_mode : full
LINC02653Gene_name : LINC02653;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105378426
Closest_right : LOC124902478
.Location : .
CytoBand : q23.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15153829
po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:67280609-91435236
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15125151; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18330784
po_P_loss_coord : 10:12787208-133613639; 10:79925607-133787422; 10:80835717-91782659; 10:81619486-91459412; 10:88063391-94297184
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr10:90322634-90846341; chr10:90353853-90533617
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369
B_loss_AFmax : 0.3941
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr10:90353853-90533617 dbVar
po_B_gain_someG_coord : chr10:90322634-90846341 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2
po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 10:90460634-90460700
Repeat_type_left : (AATTAA)n
Gap_left : .
GC_content_left : 0.290
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 10:90460634-90460700
Repeat_type_right : (AATTAA)n
Gap_right : .
GC_content_right : 0.290
CHM13,HG02257Samples_ID : CHM13,HG02257
>45172931>45172933ID : >45172931>45172933
TREF : T
TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC[...]ALT : TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATGAGCATT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>45172931>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45172931>45172933,>45172931<45172932>45172933; LV=0; NS=45; e=90460747; s=292; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|1HG02257 : 0|1
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 292
splitAnnotation_mode : split
LINC02653Gene_name : LINC02653;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101926942
intron2-intron2Location : intron2-intron2
CytoBand : q23.31
Location2 : UTR
Tx : NR_110657
Tx_version : 1
Tx_start : 90402520
Tx_end : 90540805
Exon_count : 7
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 8913
Nearest_SS_type : 3'
Intersect_start : 90460746
Intersect_end : 90460747
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr10:90322634-90846341; chr10:90353853-90533617
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369
B_loss_AFmax : 0.3941
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02257Samples_ID : CHM13,HG02257
>45172931>45172933ID : >45172931>45172933
TREF : T
TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC[...]ALT : TGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATGAGCATT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>45172931>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>45172931>45172933,>45172931<45172932>45172933; LV=0; NS=45; e=90460747; s=292; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|1HG02257 : 0|1
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 336
Gene_count : 1
fullAnnotation_mode : full
TET1Gene_name : TET1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9956e-01
HI : .
TS : .
DDD_HI_percent : 67.48
ExAC_cnvZ : 1.11314227599143
ExAC_delZ : 0.678190237197223
ExAC_dupZ : 0.939902642024546
ExAC_synZ : -1.37000820337136
ExAC_misZ : -0.388892237950016
Closest_left : SLC25A16
Closest_right : CCAR1
.Location : .
CytoBand : q21.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
STOX1 (morbid/RE=GH_promoter_enhancer); KIFBP[...]RE_gene : STOX1 (morbid/RE=GH_promoter_enhancer); KIFBP (morbid/RE=GH_promoter_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148014; dbVar:nssv15148838; dbVar:nssv15132882; dbVar:nssv15153829
po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:42685307-73715908; 10:50729368-87147204; 10:67196568-79422057; 10:67280609-91435236
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15146419; dbVar:nssv15134816; dbVar:nssv15151903; dbVar:nssv17969411
po_P_loss_coord : 10:12787208-133613639; 10:58436467-74415216; 10:63402580-75296099; 10:66634654-68913719; 10:66975497-77125956
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr10:68412550-68666850
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:59459006-109812369
B_loss_AFmax : 0.3941
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr10:68412550-68666850 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f;
po_B_loss_someG_coord : chr10:37996824-76847693 gnomAD-SV_v3_DEL_chr10_a13546d2; chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.275
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.275
CHM13,HG02109Samples_ID : CHM13,HG02109
>44953021>44953023ID : >44953021>44953023
AREF : A
AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>44953021>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>44953021>44953023,>44953021>44953022>44953023; LV=0; NS=45; e=68601836; s=336; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 336
splitAnnotation_mode : split
TET1Gene_name : TET1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9956e-01
HI : .
TS : .
DDD_HI_percent : 67.48
ACMG : .
ExAC_cnvZ : 1.11314227599143
ExAC_delZ : 0.678190237197223
ExAC_dupZ : 0.939902642024546
ExAC_synZ : -1.37000820337136
ExAC_misZ : -0.388892237950016
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80312
intron3-intron3Location : intron3-intron3
CytoBand : q21.3
Location2 : UTR
Tx : XR_001747210
Tx_version : 2
Tx_start : 68560336
Tx_end : 68651938
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 801
Nearest_SS_type : 5'
Intersect_start : 68601835
Intersect_end : 68601836
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr10:68412550-68666850
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:59459006-109812369
B_loss_AFmax : 0.3941
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02109Samples_ID : CHM13,HG02109
>44953021>44953023ID : >44953021>44953023
AREF : A
AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : AATACTAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>44953021>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>44953021>44953023,>44953021>44953022>44953023; LV=0; NS=45; e=68601836; s=336; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 181
Gene_count : 1
fullAnnotation_mode : full
SELENOOLPGene_name : SELENOOLP;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FAM238B
Closest_right : PDSS1
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15127811; dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161671; dbVar:nssv15161670; nssv15161864; dbVar:nssv17969399; dbVar:nssv18830975; dbVar:nssv15136587; dbVar:nssv15133211
po_P_gain_coord : 10:26907-35400193; 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54087-49753594; 10:54088-133613639; 10:6231972-34443593; 10:11096730-133613639; 10:19088162-32732293; 10:25484474-26963308
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989
po_P_loss_coord : 10:12787208-133613639
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr10:26609358-26687927
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr10:26604070-26682071; chr10:26654862-26685339
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr10:26609358-26687927 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:26654862-26685339 dbVar
po_B_loss_someG_coord : chr10:26604070-26682071 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 10:26670346-26675384
Repeat_coord_left : 10:26671981-26672284
Repeat_type_left : AluSq2
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 10:26670346-26675384
Repeat_coord_right : 10:26671981-26672284
Repeat_type_right : AluSq2
Gap_right : .
GC_content_right : 0.540
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02145,HG02148,HG02622,HG02630,HG02818,HG03492
>47174912>47174914ID : >47174912>47174914
TREF : T
TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG[...]ALT : TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA
60QUAL : 60
.FILTER : .
AC=28; AF=0.314607; AN=89; AT=>47174912>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>47174912>47174914,>47174912>47174913>47174914; LV=0; NS=45; e=26672155; s=181; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|0HG00438 : 1|0
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
0|1HG00735 : 0|1
1|0HG00741 : 1|0
0|1HG01071 : 0|1
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|1HG01243 : 0|1
0|1HG01258 : 0|1
1|0HG01358 : 1|0
1|0HG01361 : 1|0
1|0HG01891 : 1|0
0|1HG01928 : 0|1
1|0HG01952 : 1|0
1|0HG01978 : 1|0
0|0HG02055 : 0|0
1|1HG02080 : 1|1
0|0HG02109 : 0|0
1|0HG02145 : 1|0
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
1|0HG02622 : 1|0
1|0HG02630 : 1|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|1HG02818 : 0|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|1HG03492 : 1|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 181
splitAnnotation_mode : split
SELENOOLPGene_name : SELENOOLP;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105376462
intron1-intron1Location : intron1-intron1
CytoBand : p12.1
Location2 : UTR
Tx : XR_930765
Tx_version : 3
Tx_start : 26662923
Tx_end : 26675775
Exon_count : 3
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3538
Nearest_SS_type : 5'
Intersect_start : 26672154
Intersect_end : 26672155
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr10:26609358-26687927
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr10:26604070-26682071; chr10:26654862-26685339
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02145,HG02148,HG02622,HG02630,HG02818,HG03492
>47174912>47174914ID : >47174912>47174914
TREF : T
TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG[...]ALT : TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA
60QUAL : 60
.FILTER : .
AC=28; AF=0.314607; AN=89; AT=>47174912>[...]INFO : AC=28; AF=0.314607; AN=89; AT=>47174912>47174914,>47174912>47174913>47174914; LV=0; NS=45; e=26672155; s=181; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|0HG00438 : 1|0
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
0|1HG00735 : 0|1
1|0HG00741 : 1|0
0|1HG01071 : 0|1
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|1HG01243 : 0|1
0|1HG01258 : 0|1
1|0HG01358 : 1|0
1|0HG01361 : 1|0
1|0HG01891 : 1|0
0|1HG01928 : 0|1
1|0HG01952 : 1|0
1|0HG01978 : 1|0
0|0HG02055 : 0|0
1|1HG02080 : 1|1
0|0HG02109 : 0|0
1|0HG02145 : 1|0
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
1|0HG02622 : 1|0
1|0HG02630 : 1|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|1HG02818 : 0|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|1HG03492 : 1|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 104
Gene_count : 1
fullAnnotation_mode : full
PHF24Gene_name : PHF24;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SPATA31F3
Closest_right : DNAJB5-DT
.Location : .
CytoBand : p13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv17976764; dbVar:nssv15148245; dbVar:nssv15777248; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146218; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv15147380; dbVar:nssv15142058; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv16254389; dbVar:nssv15133308; dbVar:nssv15776689
po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-35903401; 9:203862-38381642; 9:203862-38472982; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-38741440; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:7162305-37038771; 9:17132126-35567054; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:32192409-38311779; 9:33225731-38529813; 9:34542638-67920552
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15132770; dbVar:nssv15144364; dbVar:nssv17173282
po_P_loss_coord : 9:33572682-36782015; 9:34458987-35809465; 9:34459007-36276944
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681
B_loss_AFmax : 0.2226
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 9:34903761-34904798; 9:34904797-34904905
Repeat_type_left : L1PB; L1PB
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 9:34903761-34904798; 9:34904797-34904905
Repeat_type_right : L1PB; L1PB
Gap_right : .
GC_content_right : 0.405
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>42358236>42358234ID : >42358236>42358234
GREF : G
GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAAT[...]ALT : GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAATCCGTCTGGTCTTGGACTTTTTTTTGTTGGTAATTTTTAAATTACCATTTCAATCTCACTG
60QUAL : 60
.FILTER : .
AC=81; AF=0.910112; AN=89; AT=>42358236>[...]INFO : AC=81; AF=0.910112; AN=89; AT=>42358236>42358234,>42358236>42358235>42358234; LV=0; NS=45; e=34904798; s=104; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|0HG00621 : 1|0
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|0HG01891 : 1|0
0|1HG01928 : 0|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|0HG02055 : 1|0
1|1HG02080 : 1|1
0|1HG02109 : 0|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
0|1HG03098 : 0|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
0|1HG03579 : 0|1
0|1NA18906 : 0|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 104
splitAnnotation_mode : split
PHF24Gene_name : PHF24;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23349
intron5-intron5Location : intron5-intron5
CytoBand : p13.3
Location2 : CDS
Tx : XM_047423102
Tx_version : 1
Tx_start : 34665606
Tx_end : 34982544
Exon_count : 12
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 15143
Nearest_SS_type : 5'
Intersect_start : 34904797
Intersect_end : 34904798
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681
B_loss_AFmax : 0.2226
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>42358236>42358234ID : >42358236>42358234
GREF : G
GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAAT[...]ALT : GGTACCAATTCTTCTTTGAATGTTTGGTAGAATTCTGCTGTGAATCCGTCTGGTCTTGGACTTTTTTTTGTTGGTAATTTTTAAATTACCATTTCAATCTCACTG
60QUAL : 60
.FILTER : .
AC=81; AF=0.910112; AN=89; AT=>42358236>[...]INFO : AC=81; AF=0.910112; AN=89; AT=>42358236>42358234,>42358236>42358235>42358234; LV=0; NS=45; e=34904798; s=104; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|0HG00621 : 1|0
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|0HG01891 : 1|0
0|1HG01928 : 0|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|0HG02055 : 1|0
1|1HG02080 : 1|1
0|1HG02109 : 0|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
0|1HG03098 : 0|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
0|1HG03579 : 0|1
0|1NA18906 : 0|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 305
Gene_count : 1
fullAnnotation_mode : full
PHF24Gene_name : PHF24;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SPATA31F1
Closest_right : SPATA31F2P
.Location : .
CytoBand : p13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PIGO (morbid/RE=GH_enhancer); RE_gene : PIGO (morbid/RE=GH_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv17976764; dbVar:nssv15148245; dbVar:nssv15777248; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146218; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv15147380; dbVar:nssv15142058; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv16254389; dbVar:nssv15133308; dbVar:nssv15776689
po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-35903401; 9:203862-38381642; 9:203862-38472982; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-38741440; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:7162305-37038771; 9:17132126-35567054; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:32192409-38311779; 9:33225731-38529813; 9:34542638-67920552
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15132770; dbVar:nssv15144364; dbVar:nssv17173282
po_P_loss_coord : 9:33572682-36782015; 9:34458987-35809465; 9:34459007-36276944
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681; chr9:34765893-34792191
B_loss_AFmax : 0.2226
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr9:34765893-34792191 dbVar
po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 9:34770832-34771133
Repeat_type_left : AluSq2
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 9:34770832-34771133
Repeat_type_right : AluSq2
Gap_right : .
GC_content_right : 0.415
CHM13,HG01175,NA20129Samples_ID : CHM13,HG01175,NA20129
>42360918>42360916ID : >42360918>42360916
AREF : A
AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG[...]ALT : AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>42360918>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>42360918>42360916,>42360918<42360917>42360916; LV=0; NS=45; e=34770774; s=305; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 305
splitAnnotation_mode : split
PHF24Gene_name : PHF24;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23349
intron4-intron4Location : intron4-intron4
CytoBand : p13.3
Location2 : CDS
Tx : XM_047423102
Tx_version : 1
Tx_start : 34665606
Tx_end : 34982544
Exon_count : 12
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 67735
Nearest_SS_type : 5'
Intersect_start : 34770773
Intersect_end : 34770774
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681; chr9:34765893-34792191
B_loss_AFmax : 0.2226
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01175,NA20129Samples_ID : CHM13,HG01175,NA20129
>42360918>42360916ID : >42360918>42360916
AREF : A
AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG[...]ALT : AAAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>42360918>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>42360918>42360916,>42360918<42360917>42360916; LV=0; NS=45; e=34770774; s=305; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 167
Gene_count : 1
fullAnnotation_mode : full
VIRMAGene_name : VIRMA;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FSBP
Closest_right : VIRMA-DT
.Location : .
CytoBand : q22.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15161797; dbVar:nssv18326351; dbVar:nssv17970300; dbVar:nssv15161337; dbVar:nssv18330266; dbVar:nssv15161103; dbVar:nssv17977109; dbVar:nssv15161374; dbVar:nssv15154586; dbVar:nssv15161674; dbVar:nssv15161669; dbVar:nssv15161773; dbVar:nssv15161791; dbVar:nssv15161680
po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:46031341-139285494; 8:68000198-145070385; 8:69470756-145070385; 8:77480051-145068712; 8:78497115-118028392; 8:78614078-145054634; 8:83800019-145070385; 8:85766000-145070385; 8:85828926-115505898; 8:85828926-145070385; 8:85829000-141679774; 8:86300585-137022587; 8:87931153-145068712; 8:92035255-140345536
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147911; dbVar:nssv18830833; dbVar:nssv15134486; dbVar:nssv15122044; dbVar:nssv15122045; dbVar:nssv15152092; dbVar:nssv15131800; dbVar:nssv15120391
po_P_loss_coord : 8:78672464-95366868; 8:88167671-96966046; 8:90940997-94538343; 8:92283180-95786443; 8:92287063-95786443; 8:92379554-95560378; 8:92755533-97792132; 8:93038176-95667782
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr8:94383575-94552987
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr8:94383575-94552987 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 8:94491032-94491324
Repeat_type_left : AluSz
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 8:94491032-94491324
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.485
CHM13,HG00438,HG01258,HG01891,HG02055,HG02486[...]Samples_ID : CHM13,HG00438,HG01258,HG01891,HG02055,HG02486,HG02559,HG02717,HG02723,HG02886,HG03098,HG03453,HG03486,HG03516,HG03540,NA21309
>39440483>39440485ID : >39440483>39440485
AREF : A
AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG[...]ALT : AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=19; AF=0.213483; AN=89; AT=>39440483>[...]INFO : AC=19; AF=0.213483; AN=89; AT=>39440483>39440485,>39440483<39440484>39440485; LV=0; NS=45; e=94491164; s=167; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|1HG00438 : 0|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|1HG01891 : 1|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|1HG02055 : 1|1
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|1HG02486 : 0|1
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
1|1HG02717 : 1|1
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
1|0HG03098 : 1|0
0|1HG03453 : 0|1
0|1HG03486 : 0|1
0|0HG03492 : 0|0
0|1HG03516 : 0|1
1|1HG03540 : 1|1
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
1|0NA21309 : 1|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 167
splitAnnotation_mode : split
VIRMAGene_name : VIRMA;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25962
intron18-intron18Location : intron18-intron18
CytoBand : q22.1
Location2 : CDS
Tx : XM_047421678
Tx_version : 1
Tx_start : 94487688
Tx_end : 94537144
Exon_count : 20
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 413
Nearest_SS_type : 5'
Intersect_start : 94491163
Intersect_end : 94491164
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr8:94383575-94552987
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG01258,HG01891,HG02055,HG02486[...]Samples_ID : CHM13,HG00438,HG01258,HG01891,HG02055,HG02486,HG02559,HG02717,HG02723,HG02886,HG03098,HG03453,HG03486,HG03516,HG03540,NA21309
>39440483>39440485ID : >39440483>39440485
AREF : A
AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG[...]ALT : AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=19; AF=0.213483; AN=89; AT=>39440483>[...]INFO : AC=19; AF=0.213483; AN=89; AT=>39440483>39440485,>39440483<39440484>39440485; LV=0; NS=45; e=94491164; s=167; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|1HG00438 : 0|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|1HG01891 : 1|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|1HG02055 : 1|1
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|1HG02486 : 0|1
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
1|1HG02717 : 1|1
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
1|0HG03098 : 1|0
0|1HG03453 : 0|1
0|1HG03486 : 0|1
0|0HG03492 : 0|0
0|1HG03516 : 0|1
1|1HG03540 : 1|1
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 215
Gene_count : 1
fullAnnotation_mode : full
ST18Gene_name : ST18;
LOEUF_bin : 1
GnomAD_pLI : 9.9459e-01
ExAC_pLI : 9.9901e-01
HI : .
TS : .
DDD_HI_percent : 15.51
ExAC_cnvZ : 0.604527336056182
ExAC_delZ : 1.23482767451879
ExAC_dupZ : 0.154890483409777
ExAC_synZ : -0.325924461949738
ExAC_misZ : -0.699089013983542
Closest_left : LOC101929341
Closest_right : ALKAL1
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797
po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967
po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.395
CHM13,HG02109,HG02145,HG02559,HG02572,HG02717[...]Samples_ID : CHM13,HG02109,HG02145,HG02559,HG02572,HG02717,HG02723,HG03516,NA18906,NA20129,NA21309
>38509440>38509442ID : >38509440>38509442
GREF : G
GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG[...]ALT : GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAATCTG
60QUAL : 60
.FILTER : .
AC=10; AF=0.11236; AN=89; AT=>38509440>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>38509440>38509442,>38509440<38509441>38509442; LV=0; NS=45; e=52260464; s=215; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|1HG02572 : 0|1
0|0HG02622 : 0|0
0|0HG02630 : 0|0
1|0HG02717 : 1|0
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|1HG03516 : 0|1
0|0HG03540 : 0|0
0|0HG03579 : 0|0
1|0NA18906 : 1|0
1|0NA20129 : 1|0
1|0NA21309 : 1|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 215
splitAnnotation_mode : split
ST18Gene_name : ST18;
LOEUF_bin : 1
GnomAD_pLI : 9.9459e-01
ExAC_pLI : 9.9901e-01
HI : .
TS : .
DDD_HI_percent : 15.51
ACMG : .
ExAC_cnvZ : 0.604527336056182
ExAC_delZ : 1.23482767451879
ExAC_dupZ : 0.154890483409777
ExAC_synZ : -0.325924461949738
ExAC_misZ : -0.699089013983542
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9705
intron2-intron2Location : intron2-intron2
CytoBand : q11.23
Location2 : 5'UTR
Tx : NM_001352826
Tx_version : 2
Tx_start : 52110837
Tx_end : 52409756
Exon_count : 26
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 13799
Nearest_SS_type : 3'
Intersect_start : 52260463
Intersect_end : 52260464
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02109,HG02145,HG02559,HG02572,HG02717[...]Samples_ID : CHM13,HG02109,HG02145,HG02559,HG02572,HG02717,HG02723,HG03516,NA18906,NA20129,NA21309
>38509440>38509442ID : >38509440>38509442
GREF : G
GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG[...]ALT : GGCTGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAATCTG
60QUAL : 60
.FILTER : .
AC=10; AF=0.11236; AN=89; AT=>38509440>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>38509440>38509442,>38509440<38509441>38509442; LV=0; NS=45; e=52260464; s=215; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|1HG02572 : 0|1
0|0HG02622 : 0|0
0|0HG02630 : 0|0
1|0HG02717 : 1|0
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|1HG03516 : 0|1
0|0HG03540 : 0|0
0|0HG03579 : 0|0
1|0NA18906 : 1|0
1|0NA20129 : 1|0
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 340
Gene_count : 1
fullAnnotation_mode : full
PXDNLGene_name : PXDNL;
LOEUF_bin : 6
GnomAD_pLI : 2.2028e-35
ExAC_pLI : 1.9368e-27
HI : .
TS : .
DDD_HI_percent : 85.15
ExAC_cnvZ : -0.499260430055122
ExAC_delZ : -0.456851350356162
ExAC_dupZ : -0.49969613839313
ExAC_synZ : 1.18391640274789
ExAC_misZ : -0.36274895648455
Closest_left : LOC105375831
Closest_right : LOC105375833
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797
po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967
po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr8:51272704-51631269
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr8:51272704-51631269 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 8:51546394-51552831
Repeat_type_left : L1PB1
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 8:51546394-51552831
Repeat_type_right : L1PB1
Gap_right : .
GC_content_right : 0.370
CHM13,NA18906Samples_ID : CHM13,NA18906
>38492312>38492314ID : >38492312>38492314
TREF : T
TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTT[...]ALT : TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAGAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>38492312>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38492312>38492314,>38492312>38492313>38492314; LV=0; NS=45; e=51552275; s=340; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 340
splitAnnotation_mode : split
PXDNLGene_name : PXDNL;
LOEUF_bin : 6
GnomAD_pLI : 2.2028e-35
ExAC_pLI : 1.9368e-27
HI : .
TS : .
DDD_HI_percent : 85.15
ACMG : .
ExAC_cnvZ : -0.499260430055122
ExAC_delZ : -0.456851350356162
ExAC_dupZ : -0.49969613839313
ExAC_synZ : 1.18391640274789
ExAC_misZ : -0.36274895648455
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 137902
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : XM_011517458
Tx_version : 3
Tx_start : 51319576
Tx_end : 51556911
Exon_count : 21
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4564
Nearest_SS_type : 5'
Intersect_start : 51552274
Intersect_end : 51552275
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr8:51272704-51631269
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,NA18906Samples_ID : CHM13,NA18906
>38492312>38492314ID : >38492312>38492314
TREF : T
TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTT[...]ALT : TTCTTATTTTATTTTATTTTATTTTATTTTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAGAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>38492312>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38492312>38492314,>38492312>38492313>38492314; LV=0; NS=45; e=51552275; s=340; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 325
Gene_count : 1
fullAnnotation_mode : full
CPA4Gene_name : CPA4;
LOEUF_bin : 7
GnomAD_pLI : 9.3852e-18
ExAC_pLI : 3.5491e-07
HI : .
TS : .
DDD_HI_percent : 54.59
ExAC_cnvZ : 0.775105511443875
ExAC_delZ : 0.378378492743593
ExAC_dupZ : 0.793191358899084
ExAC_synZ : 0.995709945832102
ExAC_misZ : -0.272154080342313
Closest_left : CPA2
Closest_right : LOC105375503
.Location : .
CytoBand : q32.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv16208848; dbVar:nssv15147531; dbVar:nssv15148872; dbVar:nssv15606038; dbVar:nssv15132342; dbVar:nssv15145666
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:109611004-159327017; 7:115459016-159325817; 7:121863760-159335865; 7:128672397-159326530; 7:128747479-134018250; 7:129310167-159282390
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15147406; dbVar:nssv15137807; dbVar:nssv17970251; dbVar:nssv17970254; dbVar:nssv15133245; dbVar:nssv17970255
po_P_loss_coord : 7:54186-159282390; 7:117326806-134790689; 7:124170658-134163594; 7:124327422-133045221; 7:124463929-135008839; 7:126859733-132750936; 7:127655645-139824559
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 7:130313059-130316655
Repeat_type_left : HERVFH19-int
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 7:130313059-130316655
Repeat_type_right : HERVFH19-int
Gap_right : .
GC_content_right : 0.415
CHM13Samples_ID : CHM13
>35619480>35619482ID : >35619480>35619482
AREF : A
AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC[...]ALT : AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCAGAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>35619480>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>35619480>35619482,>35619480>35619481>35619482; LV=0; NS=45; e=130313579; s=325; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 325
splitAnnotation_mode : split
CPA4Gene_name : CPA4;
LOEUF_bin : 7
GnomAD_pLI : 9.3852e-18
ExAC_pLI : 3.5491e-07
HI : 0
TS : 0
DDD_HI_percent : 54.59
ACMG : .
ExAC_cnvZ : 0.775105511443875
ExAC_delZ : 0.378378492743593
ExAC_dupZ : 0.793191358899084
ExAC_synZ : 0.995709945832102
ExAC_misZ : -0.272154080342313
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51200
intron9-intron9Location : intron9-intron9
CytoBand : q32.2
Location2 : CDS
Tx : NM_001163446
Tx_version : 2
Tx_start : 130293160
Tx_end : 130324180
Exon_count : 10
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1456
Nearest_SS_type : 5'
Intersect_start : 130313578
Intersect_end : 130313579
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13Samples_ID : CHM13
>35619480>35619482ID : >35619480>35619482
AREF : A
AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC[...]ALT : AGAGTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCAGAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>35619480>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>35619480>35619482,>35619480>35619481>35619482; LV=0; NS=45; e=130313579; s=325; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 316
Gene_count : 1
fullAnnotation_mode : full
BAZ1BGene_name : BAZ1B;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 23.74
ExAC_cnvZ : 0.395552906953086
ExAC_delZ : 1.02239565516008
ExAC_dupZ : 0.0159631069818757
ExAC_synZ : -0.902054979760057
ExAC_misZ : 4.05717005254254
Closest_left : FZD9
Closest_right : BCL7B
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN)
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15146013; dbVar:nssv15146778; dbVar:nssv15147714; dbVar:nssv15147012; dbVar:nssv15147013; dbVar:nssv15755212; dbVar:nssv15147334; dbVar:nssv15146741; dbVar:nssv15154519; dbVar:nssv15151509; dbVar:nssv15152109; dbVar:nssv15153678; dbVar:nssv15148173; dbVar:nssv15149887; dbVar:nssv15147399; dbVar:nssv15148904; dbVar:nssv15174166; dbVar:nssv15128409; dbVar:nssv15150793; dbVar:nssv16254014; dbVar:nssv18830985; dbVar:nssv15149513; dbVar:nssv15151227; dbVar:nssv15126184; dbVar:nssv17976854; dbVar:nssv15150228; dbVar:nssv15147014; nssv15147017; dbVar:nssv15147458; dbVar:nssv15146773; dbVar:nssv15148877; dbVar:nssv15146395; dbVar:nssv15147556; dbVar:nssv15146449; dbVar:nssv15151508; dbVar:nssv15150733; dbVar:nssv15154518; dbVar:nssv17955880; dbVar:nssv18830970; dbVar:nssv15146933; dbVar:nssv16215249; dbVar:nssv15146396; dbVar:nssv15159763; dbVar:nssv15160831; dbVar:nssv15167739; TS3:ISCA-37392; dbVar:nssv15146450; dbVar:nssv15147327; dbVar:nssv17976654; dbVar:nssv15146175; nssv15148276; dbVar:nssv15148970
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:62977086-75415352; 7:72179093-79164071; 7:72503228-74719013; 7:72649516-75361855; 7:72768822-74869255; 7:72893988-74365935; 7:72938065-74779028; 7:73040502-75255046; 7:73166841-74732825; 7:73166841-74761099; 7:73166841-74783503; 7:73166841-75274941; 7:73175476-74740268; 7:73175476-74751069; 7:73192370-74779057; 7:73192370-74883978; 7:73192411-74738864; 7:73235974-74774225; 7:73245642-74728902; 7:73245642-74750557; 7:73250430-74748249; 7:73263133-74728802; 7:73263261-74728902; 7:73271720-74775327; 7:73272915-74740732; 7:73278090-74740162; 7:73280575-74725240; 7:73280575-74727989; 7:73280575-74728722; 7:73280575-74779057; 7:73280575-74839100; 7:73286126-74732517; 7:73286413-74725240; 7:73286523-74655531; 7:73286523-74727918; 7:73287017-74728902; 7:73303349-74718991; 7:73304281-74727918; 7:73304282-74726374; 7:73308985-74727502; 7:73312576-74723034; 7:73312645-74726596; 7:73323104-74726596; 7:73329981-74730726; 7:73330453-74728172; 7:73352105-74719154; 7:73352304-74719008; 7:73352305-74628471; 7:73352305-74719013; 7:73352305-75065728
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15148211; dbVar:nssv15147057; dbVar:nssv15147200; dbVar:nssv16255682; dbVar:nssv15146320; dbVar:nssv15146676; dbVar:nssv16867365; dbVar:nssv15167734; dbVar:nssv15146211; dbVar:nssv16254015; dbVar:nssv15151112; dbVar:nssv15145801; dbVar:nssv15152099; dbVar:nssv17977008; dbVar:nssv15151511; dbVar:nssv17977009; dbVar:nssv15145887; dbVar:nssv15147427; dbVar:nssv15153677; dbVar:nssv15154521; dbVar:nssv16208139; dbVar:nssv18830917; dbVar:nssv15151289; nssv18792672; dbVar:nssv18330757; dbVar:nssv15125131; dbVar:nssv17977011; dbVar:nssv15167735; dbVar:nssv15167736; dbVar:nssv15168977; dbVar:nssv18330770; dbVar:nssv16215159; dbVar:nssv15129678; dbVar:nssv15606134; dbVar:nssv15145898; dbVar:nssv15151092; dbVar:nssv15147158; dbVar:nssv15148192; dbVar:nssv15148206; dbVar:nssv15145827; dbVar:nssv15755220; dbVar:nssv17977017; dbVar:nssv15147160; dbVar:nssv15147159; dbVar:nssv15145802; dbVar:nssv15147457; dbVar:nssv15148226; dbVar:nssv15147515; dbVar:nssv15147502; dbVar:nssv15148195; dbVar:nssv15147550; dbVar:nssv17977015; dbVar:nssv15605840; dbVar:nssv17977014; dbVar:nssv15149859; dbVar:nssv17977016; dbVar:nssv15150016; dbVar:nssv15146951; dbVar:nssv16297072; dbVar:nssv18830737; dbVar:nssv15154517; nssv17977012; dbVar:nssv17977007; dbVar:nssv15146637; dbVar:nssv15149107; dbVar:nssv18831000; dbVar:nssv15150231; dbVar:nssv15150699; dbVar:nssv15150637; dbVar:nssv15151346; dbVar:nssv15148257; nssv17977121; dbVar:nssv15150643; dbVar:nssv15149860; dbVar:nssv15151090; dbVar:nssv18329614; dbVar:nssv18330419; dbVar:nssv18330223; dbVar:nssv15167737; dbVar:nssv15605774; dbVar:nssv8640006; dbVar:nssv15167738; dbVar:nssv15147726; dbVar:nssv15146708; dbVar:nssv15755221; HI3:ISCA-37392; dbVar:nssv15605838; dbVar:nssv15605839; dbVar:nssv15146451; dbVar:nssv15146687; dbVar:nssv15147324; dbVar:nssv15147329; dbVar:nssv15145649; nssv15146804; nssv15153080; dbVar:nssv15145670; dbVar:nssv15145679; nssv15146800; dbVar:nssv15146612; dbVar:nssv15151951; nssv15605841
po_P_loss_coord : 7:54186-159282390; 7:62736365-75432710; 7:68668308-73710276; 7:69382354-77823832; 7:69512245-74525180; 7:71225345-81735657; 7:71461128-73614730; 7:72382984-73976980; 7:72835093-74782015; 7:72930549-74869255; 7:72932580-77080283; 7:72986075-76378063; 7:73096543-74727989; 7:73122657-75175451; 7:73175156-74809477; 7:73175476-74972599; 7:73175476-75175451; 7:73192370-74779057; 7:73192370-74869255; 7:73194475-74972599; 7:73198003-75158835; 7:73207683-76378063; 7:73214502-74773500; 7:73229598-74727852; 7:73229599-74728722; 7:73230598-74730084; 7:73230980-74727852; 7:73236073-74724270; 7:73236232-74724270; 7:73239274-74720592; 7:73240750-74727852; 7:73243196-74745961; 7:73263197-74730084; 7:73268295-74726912; 7:73271691-74727989; 7:73277219-74727852; 7:73280575-74723034; 7:73280575-74727918; 7:73280575-74789341; 7:73280575-74924007; 7:73285381-74727991; 7:73286126-74727852; 7:73286413-74707848; 7:73286413-74723034; 7:73286413-74725240; 7:73286413-74727989; 7:73286413-74758583; 7:73286413-74779057; 7:73286413-74869255; 7:73286509-74727852; 7:73286523-74727156; 7:73286941-74727852; 7:73286995-74727852; 7:73286995-74727918; 7:73287017-74727155; 7:73287083-74727852; 7:73294238-74718954; 7:73294238-74924037; 7:73303373-74727886; 7:73303399-74758838; 7:73304127-74727446; 7:73304127-74727852; 7:73304256-74718954; 7:73304256-74719013; 7:73304278-74727414; 7:73304281-74484185; 7:73304281-74727156; 7:73304281-74727265; 7:73304281-74727408; 7:73304281-74727852; 7:73304281-74732517; 7:73304281-74839100; 7:73304281-74871338; 7:73304282-74727918; 7:73304282-74728722; 7:73304282-74728902; 7:73305390-74804195; 7:73307453-74544776; 7:73308985-74727502; 7:73308985-74785746; 7:73308985-74803049; 7:73312583-74725057; 7:73312595-74727991; 7:73330453-74728172; 7:73330492-74924037; 7:73330492-76409501; 7:73352105-74719154; 7:73352304-74719008; 7:73352304-74779051; 7:73352304-74924023; 7:73352305-74719013; 7:73352305-74869255; 7:73352305-74924037; 7:73352305-76722261; 7:73358514-74719000
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr7:73294999-74643669
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr7:73294999-74643669 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
CHM13,HG01243Samples_ID : CHM13,HG01243
>32666377>32666379ID : >32666377>32666379
AREF : A
AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG[...]ALT : AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>32666377>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>32666377>32666379,>32666377>32666378>32666379; LV=0; NS=45; e=73479096; s=316; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
1|0HG01243 : 1|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 316
splitAnnotation_mode : split
BAZ1BGene_name : BAZ1B;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 23.74
ACMG : .
ExAC_cnvZ : 0.395552906953086
ExAC_delZ : 1.02239565516008
ExAC_dupZ : 0.0159631069818757
ExAC_synZ : -0.902054979760057
ExAC_misZ : 4.05717005254254
GenCC_disease : autism spectrum disorder
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 9031
intron6-intron6Location : intron6-intron6
CytoBand : q11.23
Location2 : CDS
Tx : NM_001370402
Tx_version : 1
Tx_start : 73440405
Tx_end : 73522293
Exon_count : 19
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 526
Nearest_SS_type : 3'
Intersect_start : 73479095
Intersect_end : 73479096
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr7:73294999-74643669
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01243Samples_ID : CHM13,HG01243
>32666377>32666379ID : >32666377>32666379
AREF : A
AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG[...]ALT : AGGTACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>32666377>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>32666377>32666379,>32666377>32666378>32666379; LV=0; NS=45; e=73479096; s=316; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
1|0HG01243 : 1|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 308
Gene_count : 1
fullAnnotation_mode : full
HECW1Gene_name : HECW1;
LOEUF_bin : 0
GnomAD_pLI : 9.9982e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 28.13
ExAC_cnvZ : 0.846649046559589
ExAC_delZ : 0.712733078829324
ExAC_dupZ : 0.740519442961211
ExAC_synZ : 1.51904491520179
ExAC_misZ : 3.54927909948242
Closest_left : MIR3943
Closest_right : LOC124901619
.Location : .
CytoBand : p14.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
BLVRA (morbid/RE=EA_enhancer); RE_gene : BLVRA (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161869; dbVar:nssv15154527; dbVar:nssv15146465; dbVar:nssv15121953
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:11009214-52795933; 7:30424271-43431206; 7:33328313-62377476; 7:42388725-43606751
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15148432; dbVar:nssv15145850; dbVar:nssv15148950; dbVar:nssv15147366; dbVar:nssv15121207; dbVar:nssv15135101; dbVar:nssv15140604; dbVar:nssv15146688; dbVar:nssv17970216; dbVar:nssv16867386
po_P_loss_coord : 7:54186-159282390; 7:32871392-44536406; 7:37303479-48660738; 7:38178000-45304100; 7:39063401-45363096; 7:39814160-45749735; 7:40020599-50543500; 7:40310785-46994824; 7:40534158-56107122; 7:40738841-50189060; 7:41084767-47905969
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr7:43185909-43196444
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr7:43185909-43196444 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 7:43194422-43194482
Repeat_type_left : U7
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 7:43194422-43194482
Repeat_type_right : U7
Gap_right : .
GC_content_right : 0.335
CHM13,NA21309Samples_ID : CHM13,NA21309
>34771684>34771686ID : >34771684>34771686
GREF : G
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATCTGGG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34771684>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34771684>34771686,>34771684<34771685>34771686; LV=0; NS=45; e=43194366; s=308; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|1NA21309 : 0|1
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 308
splitAnnotation_mode : split
HECW1Gene_name : HECW1;
LOEUF_bin : 0
GnomAD_pLI : 9.9982e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 28.13
ACMG : .
ExAC_cnvZ : 0.846649046559589
ExAC_delZ : 0.712733078829324
ExAC_dupZ : 0.740519442961211
ExAC_synZ : 1.51904491520179
ExAC_misZ : 3.54927909948242
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23072
intron1-intron1Location : intron1-intron1
CytoBand : p14.1
Location2 : 5'UTR
Tx : NM_001287059
Tx_version : 2
Tx_start : 43112646
Tx_end : 43566001
Exon_count : 28
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 49508
Nearest_SS_type : 3'
Intersect_start : 43194365
Intersect_end : 43194366
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr7:43185909-43196444
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,NA21309Samples_ID : CHM13,NA21309
>34771684>34771686ID : >34771684>34771686
GREF : G
GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATCTGGG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34771684>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34771684>34771686,>34771684<34771685>34771686; LV=0; NS=45; e=43194366; s=308; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|1NA21309 : 0|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 200
Gene_count : 1
fullAnnotation_mode : full
SUGCTGene_name : SUGCT;
LOEUF_bin : 5
GnomAD_pLI : 2.8168e-09
ExAC_pLI : 2.0306e-09
HI : .
TS : .
DDD_HI_percent : 7.16
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105375244
Closest_right : LOC105375243
.Location : .
CytoBand : p14.1
609187; OMIM_ID : 609187;
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161726; dbVar:nssv15161869; dbVar:nssv15154527; dbVar:nssv15146465
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:54186-41875885; 7:11009214-52795933; 7:30424271-43431206; 7:33328313-62377476
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15147510; dbVar:nssv15148432; dbVar:nssv15147453; dbVar:nssv15145850; dbVar:nssv15148950; dbVar:nssv15147366; dbVar:nssv18787104; dbVar:nssv15121207; dbVar:nssv15135101; dbVar:nssv15140604; dbVar:nssv15146688
po_P_loss_coord : 7:54186-159282390; 7:32678392-41044983; 7:32871392-44536406; 7:35460777-42013800; 7:37303479-48660738; 7:38178000-45304100; 7:39063401-45363096; 7:39686669-42223253; 7:39814160-45749735; 7:40020599-50543500; 7:40310785-46994824; 7:40534158-56107122
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 7:40665157-40665432
Repeat_type_left : AluSq2
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 7:40665157-40665432
Repeat_type_right : AluSq2
Gap_right : .
GC_content_right : 0.540
CHM13,HG03540Samples_ID : CHM13,HG03540
>34712688>34712690ID : >34712688>34712690
AREF : A
AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCG[...]ALT : AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34712688>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34712688>34712690,>34712688>34712689>34712690; LV=0; NS=45; e=40665289; s=200; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 200
splitAnnotation_mode : split
SUGCTGene_name : SUGCT;
LOEUF_bin : 5
GnomAD_pLI : 2.8168e-09
ExAC_pLI : 2.0306e-09
HI : .
TS : .
DDD_HI_percent : 7.16
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : glutaric acidemia type 3
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 18926513; 18926513[PMID]; 23893049
NCBI_gene_ID : 79783
intron12-intron12Location : intron12-intron12
CytoBand : p14.1
Location2 : CDS
Tx : NM_001193311
Tx_version : 2
Tx_start : 40135004
Tx_end : 40860763
Exon_count : 15
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 18766
Nearest_SS_type : 3'
Intersect_start : 40665288
Intersect_end : 40665289
609187; OMIM_ID : 609187;
OMIM_phenotype : Glutaric aciduria III, 231690 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG03540Samples_ID : CHM13,HG03540
>34712688>34712690ID : >34712688>34712690
AREF : A
AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCG[...]ALT : AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34712688>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34712688>34712690,>34712688>34712689>34712690; LV=0; NS=45; e=40665289; s=200; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 363
Gene_count : 1
fullAnnotation_mode : full
LOC107986777Gene_name : LOC107986777;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105375188
Closest_right : LOC124901831
.Location : .
CytoBand : p15.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161812; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15161332; dbVar:nssv15161072; dbVar:nssv15161745; dbVar:nssv15161726; dbVar:nssv15161658; dbVar:nssv15161367; dbVar:nssv15161541; dbVar:nssv17970196; dbVar:nssv15161869; dbVar:nssv15161632; dbVar:nssv15161289
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43361-27196404; 7:43362-159327017; 7:44936-159333620; 7:45131-25221165; 7:54186-26827634; 7:54186-37089712; 7:54186-41875885; 7:664937-29218330; 7:1698125-27207295; 7:5682210-27230311; 7:10706124-35265556; 7:11009214-52795933; 7:11522998-36355807; 7:16234213-26167278
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv15161572; dbVar:nssv15161789; dbVar:nssv15121556; dbVar:nssv15136221; dbVar:nssv15124262; dbVar:nssv15754921; dbVar:nssv15134747; dbVar:nssv16208120
po_P_loss_coord : 7:54186-159282390; 7:10610070-25760560; 7:15533813-24851432; 7:20210913-27849400; 7:20561457-32005143; 7:22895751-32582363; 7:23197164-30650837; 7:23765384-26136158; 7:23837517-33099834
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr7:23911230-24410513
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr7_1b2f632f
B_loss_coord : chr7:23621276-24677015
B_loss_AFmax : 0.0230
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr7:23911230-24410513 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr7:23621276-24677015 gnomAD-SV_v3_DEL_chr7_1b2f632f
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.330
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.335
CHM13Samples_ID : CHM13
>34310210>34310212ID : >34310210>34310212
TREF : T
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAATGGGTACTTTCT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34310210>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34310210>34310212,>34310210>34310211>34310212; LV=0; NS=45; e=24241092; s=363; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 363
splitAnnotation_mode : split
LOC107986777Gene_name : LOC107986777;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : p15.3
Location2 : UTR
Tx : XR_001745132
Tx_version : 2
Tx_start : 24141281
Tx_end : 24445138
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 44062
Nearest_SS_type : 3'
Intersect_start : 24241091
Intersect_end : 24241092
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr7:23911230-24410513
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr7_1b2f632f
B_loss_coord : chr7:23621276-24677015
B_loss_AFmax : 0.0230
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13Samples_ID : CHM13
>34310210>34310212ID : >34310210>34310212
TREF : T
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAATGGGTACTTTCT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>34310210>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>34310210>34310212,>34310210>34310211>34310212; LV=0; NS=45; e=24241092; s=363; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 136
Gene_count : 1
fullAnnotation_mode : full
GINM1Gene_name : GINM1;
LOEUF_bin : 7
GnomAD_pLI : 5.0270e-09
ExAC_pLI : 7.7068e-05
HI : .
TS : .
DDD_HI_percent : 60.16
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.410017654437726
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.494170642428615
ExAC_misZ : 0.3911849707185
Closest_left : PPIL4
Closest_right : RPS18P9
.Location : .
CytoBand : q25.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15142088; dbVar:nssv15149005; dbVar:nssv15147348; dbVar:nssv15145653; dbVar:nssv15774860
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:123959239-155794038; 6:133537272-165875545; 6:135358151-155455117; 6:141132991-169339571; 6:147873951-159706222
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150210; dbVar:nssv15150486; dbVar:nssv15152942; dbVar:nssv15147046; dbVar:nssv15146329; dbVar:nssv15147285; dbVar:nssv15151136; dbVar:nssv15147357; dbVar:nssv15755713; dbVar:nssv16208093
po_P_loss_coord : 6:139191884-150068095; 6:143754559-152015870; 6:144626596-149945019; 6:144932562-152985364; 6:146481120-151427629; 6:147805120-150893715; 6:148043094-149607232; 6:148112336-149649984; 6:148369629-150173737; 6:149110187-153798929
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9[...]B_gain_source : CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9393; dbVar
B_gain_coord : chr6:149564897-149584124; 6:149574169-149574303; chr6:149574169-149574303
B_gain_AFmax : 0.1262
B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96; gnomAD-SV_v3_DEL_chr6_3f208502
B_loss_coord : chr6:135876891-160100724; chr6:141437193-160100719
B_loss_AFmax : 0.9040
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : 6:149574169-149574303 CMRI:3_pbsv.INS.DUP.2735;
po_B_gain_someG_coord : chr6:149564897-149584124 dbVar; chr6:149574169-149574303 HPRC:pbsv.INS.DUP.9393
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr6:141437193-160100719 gnomAD-SV_v3_DEL_chr6_3f208502
po_B_loss_someG_coord : chr6:135876891-160100724 gnomAD-SV_v3_DEL_chr6_2c07ca96
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:149574048-149574351; 6:149574363-149574607
Repeat_type_left : AluSq; L1MEg
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:149574048-149574351; 6:149574363-149574607
Repeat_type_right : AluSq; L1MEg
Gap_right : .
GC_content_right : 0.560
CHM13,HG00438,HG00621,HG01175,HG01928,HG01952[...]Samples_ID : CHM13,HG00438,HG00621,HG01175,HG01928,HG01952,HG01978,HG02148,NA20129
>28999992>28999990ID : >28999992>28999990
TREF : T
TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAG[...]ALT : TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAGTAGCTTGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAAGGCCGGTCT
60QUAL : 60
.FILTER : .
AC=10; AF=0.11236; AN=89; AT=>28999992>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>28999992>28999990,>28999992<28999991>28999990; LV=0; NS=45; e=149574270; s=136; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|0HG00621 : 1|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
1|0HG01928 : 1|0
1|0HG01952 : 1|0
1|1HG01978 : 1|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 136
splitAnnotation_mode : split
GINM1Gene_name : GINM1;
LOEUF_bin : 7
GnomAD_pLI : 5.0270e-09
ExAC_pLI : 7.7068e-05
HI : .
TS : .
DDD_HI_percent : 60.16
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.410017654437726
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.494170642428615
ExAC_misZ : 0.3911849707185
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 116254
intron3-intron3Location : intron3-intron3
CytoBand : q25.1
Location2 : CDS
Tx : NM_138785
Tx_version : 5
Tx_start : 149566374
Tx_end : 149591748
Exon_count : 8
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1666
Nearest_SS_type : 5'
Intersect_start : 149574269
Intersect_end : 149574270
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9[...]B_gain_source : CMRI:3_pbsv.INS.DUP.2735; HPRC:pbsv.INS.DUP.9393; dbVar
B_gain_coord : chr6:149564897-149584124; 6:149574169-149574303; chr6:149574169-149574303
B_gain_AFmax : 0.1262
B_loss_source : gnomAD-SV_v3_DEL_chr6_2c07ca96; gnomAD-SV_v3_DEL_chr6_3f208502
B_loss_coord : chr6:135876891-160100724; chr6:141437193-160100719
B_loss_AFmax : 0.9040
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG01175,HG01928,HG01952[...]Samples_ID : CHM13,HG00438,HG00621,HG01175,HG01928,HG01952,HG01978,HG02148,NA20129
>28999992>28999990ID : >28999992>28999990
TREF : T
TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAG[...]ALT : TCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAGTAGCTTGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAAGGCCGGTCT
60QUAL : 60
.FILTER : .
AC=10; AF=0.11236; AN=89; AT=>28999992>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>28999992>28999990,>28999992<28999991>28999990; LV=0; NS=45; e=149574270; s=136; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|0HG00621 : 1|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|1HG01175 : 0|1
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
1|0HG01928 : 1|0
1|0HG01952 : 1|0
1|1HG01978 : 1|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 325
Gene_count : 1
fullAnnotation_mode : full
GRAMD2BGene_name : GRAMD2B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC101927514
Closest_right : ALDH7A1
.Location : .
CytoBand : q23.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ALDH7A1 (morbid/RE=GH_enhancer); RE_gene : ALDH7A1 (morbid/RE=GH_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15164765; dbVar:nssv15151111; nssv15151221; dbVar:nssv15776426; dbVar:nssv15142773
po_P_gain_coord : 5:13649-181478028; 5:25330-181266343; 5:113463-181292788; 5:90653302-129981762; 5:107380657-181260337
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15143209; nssv17976344; dbVar:nssv15138054; dbVar:nssv15139660; dbVar:nssv17970043; dbVar:nssv15146464; dbVar:nssv15136701; dbVar:nssv15133621; dbVar:nssv18329255; dbVar:nssv15132819; dbVar:nssv15119917; dbVar:nssv15121078; dbVar:nssv15126271; dbVar:nssv17977106
po_P_loss_coord : 5:17628633-177148719; 5:87104184-154620440; 5:90374607-128076423; 5:91411709-131319563; 5:101272215-126565043; 5:106619589-156124387; 5:110687443-130103838; 5:111463017-127193038; 5:113221695-128770606; 5:114707562-126507744; 5:116677123-132686163; 5:120739631-126823984; 5:123072609-130670586; 5:125661343-129564831
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr5:126394223-126442656
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr5:126394667-126395024
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr5:126394223-126442656 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr5:126394667-126395024 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.320
CHM13Samples_ID : CHM13
>26334961>26334963ID : >26334961>26334963
TREF : T
TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATC[...]ALT : TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>26334961>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>26334961>26334963,>26334961>26334962>26334963; LV=1; NS=45; PS=>25662516>25796736; e=126395024; s=325; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 325
splitAnnotation_mode : split
GRAMD2BGene_name : GRAMD2B;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 65983
intron1-intron1Location : intron1-intron1
CytoBand : q23.2
Location2 : CDS
Tx : XM_047417608
Tx_version : 1
Tx_start : 126360119
Tx_end : 126491787
Exon_count : 14
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 34564
Nearest_SS_type : 5'
Intersect_start : 126395023
Intersect_end : 126395024
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr5:126394223-126442656
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr5:126394667-126395024
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13Samples_ID : CHM13
>26334961>26334963ID : >26334961>26334963
TREF : T
TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATC[...]ALT : TAAAGTGAGCCAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>26334961>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>26334961>26334963,>26334961>26334962>26334963; LV=1; NS=45; PS=>25662516>25796736; e=126395024; s=325; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 351
Gene_count : 1
fullAnnotation_mode : full
CDH6Gene_name : CDH6;
LOEUF_bin : 1
GnomAD_pLI : 9.1966e-01
ExAC_pLI : 9.8083e-01
HI : .
TS : .
DDD_HI_percent : 5.78
ExAC_cnvZ : -0.46127357274398
ExAC_delZ : 0.840184791813119
ExAC_dupZ : -0.975119925822043
ExAC_synZ : 1.12474388598996
ExAC_misZ : 2.30503023286661
Closest_left : LOC105374709
Closest_right : DROSHA
.Location : .
CytoBand : p13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15147960; dbVar:nssv15146962; dbVar:nssv15147414; dbVar:nssv15164765; dbVar:nssv15147291; dbVar:nssv15146993; dbVar:nssv15146992; dbVar:nssv15153658; dbVar:nssv15151111; nssv15151221; dbVar:nssv15148913; dbVar:nssv15149106; dbVar:nssv15151282; dbVar:nssv17970013; dbVar:nssv15154368; dbVar:nssv16866489; dbVar:nssv18330254; dbVar:nssv15136232
po_P_gain_coord : 5:13649-181478028; 5:22150-33418188; 5:22150-34041150; 5:22150-74412725; 5:25330-181266343; 5:49979-46114984; 5:54840-35680845; 5:54840-45649861; 5:113462-35739302; 5:113463-181292788; 5:4849499-36818719; 5:13461555-46098825; 5:24281087-46389237; 5:26382002-46389237; 5:27227137-45685742; 5:29081089-45293929; 5:29348647-46389237; 5:31208754-32173244
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18330851; dbVar:nssv15148058; dbVar:nssv15148554; dbVar:nssv15147416; dbVar:nssv15166282; dbVar:nssv15145995; dbVar:nssv18329189; dbVar:nssv15151179; dbVar:nssv15134418; dbVar:nssv15133951
po_P_loss_coord : 5:10002-32090932; 5:22150-32248010; 5:22150-34041091; 5:22150-35831538; 5:25330-31343564; 5:113462-33998289; 5:113463-31448420; 5:17628633-177148719; 5:30149036-35213678; 5:30961311-36143306
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr5:31134943-31452028
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr5_c0e24b64
B_loss_coord : chr5:29530278-34147842
B_loss_AFmax : 0.0233
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr5:31134943-31452028 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr5:29530278-34147842 gnomAD-SV_v3_DEL_chr5_c0e24b64
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 5:31233073-31233194; 5:31233309-31233537
Repeat_type_left : (AC)n; AluJb
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 5:31233073-31233194; 5:31233309-31233537
Repeat_type_right : (AC)n; AluJb
Gap_right : .
GC_content_right : 0.310
CHM13,HG02818Samples_ID : CHM13,HG02818
>23247877>23247879ID : >23247877>23247879
GREF : G
GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>23247877>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>23247877>23247879,>23247877<23247878>23247879; LV=0; NS=45; e=31233247; s=351; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|1HG02818 : 0|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 351
splitAnnotation_mode : split
CDH6Gene_name : CDH6;
LOEUF_bin : 1
GnomAD_pLI : 9.1966e-01
ExAC_pLI : 9.8083e-01
HI : .
TS : .
DDD_HI_percent : 5.78
ACMG : .
ExAC_cnvZ : -0.46127357274398
ExAC_delZ : 0.840184791813119
ExAC_dupZ : -0.975119925822043
ExAC_synZ : 1.12474388598996
ExAC_misZ : 2.30503023286661
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1004
intron1-intron1Location : intron1-intron1
CytoBand : p13.3
Location2 : 5'UTR
Tx : NM_001362435
Tx_version : 2
Tx_start : 31193685
Tx_end : 31319380
Exon_count : 11
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 34098
Nearest_SS_type : 3'
Intersect_start : 31233246
Intersect_end : 31233247
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr5:31134943-31452028
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr5_c0e24b64
B_loss_coord : chr5:29530278-34147842
B_loss_AFmax : 0.0233
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02818Samples_ID : CHM13,HG02818
>23247877>23247879ID : >23247877>23247879
GREF : G
GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGC[...]ALT : GCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>23247877>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>23247877>23247879,>23247877<23247878>23247879; LV=0; NS=45; e=31233247; s=351; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|1HG02818 : 0|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 337
Gene_count : 1
fullAnnotation_mode : full
LOC102724210Gene_name : LOC102724210;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107986312
Closest_right : LOC105377412
.Location : .
CytoBand : q28.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv17956560; dbVar:nssv15142052; dbVar:nssv15121045; dbVar:nssv17969974; dbVar:nssv15151155; dbVar:nssv15132412; dbVar:nssv15124374; dbVar:nssv15132155; dbVar:nssv15777237; dbVar:nssv15135575
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:52000779-142661354; 4:92150002-190036318; 4:96092894-136410207; 4:103794079-144331443; 4:108278509-188831572; 4:118065570-190042639; 4:118516341-189983146; 4:121518224-190062270; 4:123952343-184357509; 4:125432944-185761887
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955989; dbVar:nssv15152873; dbVar:nssv16867390; dbVar:nssv17969979; dbVar:nssv15134394; dbVar:nssv15138751; dbVar:nssv15165153; dbVar:nssv15125388; dbVar:nssv15121752; dbVar:nssv15151701
po_P_loss_coord : 4:113951392-137084113; 4:115386702-128381805; 4:115912483-129310967; 4:115967630-128728824; 4:116630863-145429900; 4:117351882-133565667; 4:123361449-133093144; 4:124329927-127365474; 4:125118621-132773079; 4:125628539-140391895
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr4:126905432-127741428; chr4:127273719-127622583
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_e8bd9f62
B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:127355778-127360687
B_loss_AFmax : 0.2162
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr4:127273719-127622583 dbVar
po_B_gain_someG_coord : chr4:126905432-127741428 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62;
po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:127355778-127360687 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:127357381-127360091
Repeat_type_left : Arthur1
Gap_left : .
GC_content_left : 0.330
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:127357381-127360091
Repeat_type_right : Arthur1
Gap_right : .
GC_content_right : 0.325
CHM13,HG01891Samples_ID : CHM13,HG01891
>20984167>20984169ID : >20984167>20984169
TREF : T
TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>20984167>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20984167>20984169,>20984167>20984168>20984169; LV=0; NS=45; e=127357960; s=337; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|0HG01891 : 1|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 337
splitAnnotation_mode : split
LOC102724210Gene_name : LOC102724210;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron4-intron4Location : intron4-intron4
CytoBand : q28.1
Location2 : UTR
Tx : XR_001741824
Tx_version : 3
Tx_start : 127073775
Tx_end : 127470555
Exon_count : 11
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 43765
Nearest_SS_type : 5'
Intersect_start : 127357959
Intersect_end : 127357960
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr4:126905432-127741428; chr4:127273719-127622583
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_e8bd9f62
B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:127355778-127360687
B_loss_AFmax : 0.2162
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01891Samples_ID : CHM13,HG01891
>20984167>20984169ID : >20984167>20984169
TREF : T
TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCAAGTCAGCAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>20984167>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20984167>20984169,>20984167>20984168>20984169; LV=0; NS=45; e=127357960; s=337; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|0HG01891 : 1|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 349
Gene_count : 1
fullAnnotation_mode : full
CAMK2DGene_name : CAMK2D;
LOEUF_bin : 2
GnomAD_pLI : 2.2870e-03
ExAC_pLI : 1.6662e-02
HI : .
TS : .
DDD_HI_percent : 13.51
ExAC_cnvZ : 0.521730912205048
ExAC_delZ : 1.14404983000863
ExAC_dupZ : 0.0960449828285803
ExAC_synZ : 0.690842560350335
ExAC_misZ : 2.60528840762041
Closest_left : LOC105377374
Closest_right : LOC105377375
.Location : .
CytoBand : q26
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv17956560; dbVar:nssv15142052; dbVar:nssv15121045; dbVar:nssv17969974; dbVar:nssv15151155
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:52000779-142661354; 4:92150002-190036318; 4:96092894-136410207; 4:103794079-144331443; 4:108278509-188831572
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124469; dbVar:nssv15133891; dbVar:nssv17969977
po_P_loss_coord : 4:110853396-114363395; 4:111069786-116691879; 4:111927953-114513401
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr4:113722759-113853762
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_b7efc8a3; gnomAD-SV_v3_DEL_chr4_e8bd9f62
B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:105985332-120588333
B_loss_AFmax : 0.7587
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr4:113722759-113853762 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:90675744-168705093 gnomAD-SV_v3_DEL_chr4_e8bd9f62;
po_B_loss_someG_coord : chr4:73564711-189048534 gnomAD-SV_v3_DEL_chr4_aa7116c9; chr4:105985332-120588333 gnomAD-SV_v3_DEL_chr4_b7efc8a3
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:113724625-113724917
Repeat_type_left : L1MC
Gap_left : .
GC_content_left : 0.265
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:113724625-113724917
Repeat_type_right : L1MC
Gap_right : .
GC_content_right : 0.260
CHM13,HG01928Samples_ID : CHM13,HG01928
>20594486>20594484ID : >20594486>20594484
TREF : T
TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATAATAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>20594486>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20594486>20594484,>20594486>20594485>20594484; LV=0; NS=45; e=113724784; s=349; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
1|0HG01928 : 1|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 349
splitAnnotation_mode : split
CAMK2DGene_name : CAMK2D;
LOEUF_bin : 2
GnomAD_pLI : 2.2870e-03
ExAC_pLI : 1.6662e-02
HI : .
TS : .
DDD_HI_percent : 13.51
ACMG : .
ExAC_cnvZ : 0.521730912205048
ExAC_delZ : 1.14404983000863
ExAC_dupZ : 0.0960449828285803
ExAC_synZ : 0.690842560350335
ExAC_misZ : 2.60528840762041
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 817
intron2-intron2Location : intron2-intron2
CytoBand : q26
Location2 : CDS
Tx : NM_001221
Tx_version : 4
Tx_start : 113451031
Tx_end : 113761738
Exon_count : 19
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 34535
Nearest_SS_type : 5'
Intersect_start : 113724783
Intersect_end : 113724784
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr4:113722759-113853762
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr4_aa7116c9; gnomAD-SV_v3_DEL_chr4_b7efc8a3; gnomAD-SV_v3_DEL_chr4_e8bd9f62
B_loss_coord : chr4:73564711-189048534; chr4:90675744-168705093; chr4:105985332-120588333
B_loss_AFmax : 0.7587
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01928Samples_ID : CHM13,HG01928
>20594486>20594484ID : >20594486>20594484
TREF : T
TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATAATAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>20594486>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>20594486>20594484,>20594486>20594485>20594484; LV=0; NS=45; e=113724784; s=349; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
1|0HG01928 : 1|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 337
Gene_count : 1
fullAnnotation_mode : full
LOC105377262Gene_name : LOC105377262;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1269A
Closest_right : LOC101927237
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956; dbVar:nssv15132546
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693; 4:66842409-70831557
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a
B_loss_coord : chr4:65506280-67062809; chr4:66715282-66982282
B_loss_AFmax : 0.0641
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:66715282-66982282 dbVar
po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.275
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.270
CHM13,HG02055Samples_ID : CHM13,HG02055
>19737002>19737004ID : >19737002>19737004
GREF : G
GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>19737002>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19737002>19737004,>19737002>19737003>19737004; LV=0; NS=45; e=66913302; s=337; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|1HG02055 : 0|1
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 337
splitAnnotation_mode : split
LOC105377262Gene_name : LOC105377262;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : q13.2
Location2 : UTR
Tx : XR_938847
Tx_version : 2
Tx_start : 66862863
Tx_end : 67077632
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 42454
Nearest_SS_type : 3'
Intersect_start : 66913301
Intersect_end : 66913302
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a
B_loss_coord : chr4:65506280-67062809; chr4:66715282-66982282
B_loss_AFmax : 0.0641
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02055Samples_ID : CHM13,HG02055
>19737002>19737004ID : >19737002>19737004
GREF : G
GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : GCTGTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>19737002>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19737002>19737004,>19737002>19737003>19737004; LV=0; NS=45; e=66913302; s=337; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|1HG02055 : 0|1
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 107
Gene_count : 1
fullAnnotation_mode : full
IL12A-AS1Gene_name : IL12A-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124906299
Closest_right : IL12A
.Location : .
CytoBand : q25.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148025; dbVar:nssv18330760; dbVar:nssv16215292; dbVar:nssv16867380; dbVar:nssv15147564; dbVar:nssv17969903; dbVar:nssv15121038; dbVar:nssv15146977; dbVar:nssv15145927; dbVar:nssv15147555; dbVar:nssv15147518; dbVar:nssv15145707; dbVar:nssv17969910; dbVar:nssv15132154; dbVar:nssv15149548
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:103426883-198110178; 3:116901462-172324502; 3:138426448-162557822; 3:138454842-162776911; 3:143276179-193279426; 3:145769174-160787046; 3:147442567-178522531; 3:147521893-198096565; 3:152100513-198118383; 3:156118442-198125115; 3:156321879-198113452; 3:157293379-198134727; 3:157410950-181919545; 3:158141557-172788324; 3:159262843-198040019
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955929
po_P_loss_coord : 3:143720518-165534334
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:159963344-159963486; 3:159963496-159963746
Repeat_type_left : AluJr4; Tigger2b_Pri
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:159963344-159963486; 3:159963496-159963746
Repeat_type_right : AluJr4; Tigger2b_Pri
Gap_right : .
GC_content_right : 0.430
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>14060641>14060639ID : >14060641>14060639
GREF : G
GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGAC[...]ALT : GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGACAGAGTCTCACTATGTTGCCCAGGCTGGCATAGTGAGACTCTGTCTCCACAAAAAATAAAAAAT
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>14060641>140606[...]INFO : AC=89; AF=1; AN=89; AT=>14060641>14060639,>14060641>14060640>14060639; LV=0; NS=45; e=159963478; s=107; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 107
splitAnnotation_mode : split
IL12A-AS1Gene_name : IL12A-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101928376
intron9-intron9Location : intron9-intron9
CytoBand : q25.33
Location2 : UTR
Tx : NR_108088
Tx_version : 1
Tx_start : 159913399
Tx_end : 160207092
Exon_count : 10
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 25618
Nearest_SS_type : 5'
Intersect_start : 159963477
Intersect_end : 159963478
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02572,HG02622,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA18906,NA20129,NA21309
>14060641>14060639ID : >14060641>14060639
GREF : G
GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGAC[...]ALT : GTAGCTAGGACTGTGCCTGGCTAATTTTTTATTTTTTGTAGAGACAGAGTCTCACTATGTTGCCCAGGCTGGCATAGTGAGACTCTGTCTCCACAAAAAATAAAAAAT
60QUAL : 60
.FILTER : .
AC=89; AF=1; AN=89; AT=>14060641>140606[...]INFO : AC=89; AF=1; AN=89; AT=>14060641>14060639,>14060641>14060640>14060639; LV=0; NS=45; e=159963478; s=107; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
1|1HG01109 : 1|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|1HG02145 : 1|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
1|1HG02486 : 1|1
1|1HG02559 : 1|1
1|1HG02572 : 1|1
1|1HG02622 : 1|1
1|1HG02630 : 1|1
1|1HG02717 : 1|1
1|1HG02723 : 1|1
1|1HG02818 : 1|1
1|1HG02886 : 1|1
1|1HG03098 : 1|1
1|1HG03453 : 1|1
1|1HG03486 : 1|1
1|1HG03492 : 1|1
1|1HG03516 : 1|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
1|1NA18906 : 1|1
1|1NA20129 : 1|1
1|1NA21309 : 1|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 332
Gene_count : 1
fullAnnotation_mode : full
LINC01565Gene_name : LINC01565;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 98.74
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC90246
Closest_right : LOC124909430
.Location : .
CytoBand : q21.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148953; dbVar:nssv15148025; dbVar:nssv18330760
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:93800621-145695381; 3:103426883-198110178; 3:116901462-172324502
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136463; dbVar:nssv17649862; dbVar:nssv17973750; dbVar:nssv17649942; dbVar:nssv15137137; dbVar:nssv15139157; dbVar:nssv17649941; dbVar:nssv17649912; dbVar:nssv16213977
po_P_loss_coord : 3:112620978-128734134; 3:120435342-128606144; 3:120646972-133746203; 3:123281154-129981157; 3:126797421-128946623; 3:127607946-133566661; 3:128170195-128847058; 3:128208870-137170481; 3:128481000-128912627
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr3:128572157-128603657; chr3:128574628-128574993
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573
B_loss_AFmax : 0.0446
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr3:128574628-128574993 dbVar
po_B_gain_someG_coord : chr3:128572157-128603657 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:128574811-128575110
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:128574811-128575110
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.540
CHM13,HG03453Samples_ID : CHM13,HG03453
>15506756>15506758ID : >15506756>15506758
GREF : G
GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGA[...]ALT : GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAGACAAAATAATTGTCTTTTAATGACTTTAAAAGACATTGAGGTGGGTGTGGGGCTCATGCCTGTAATCCCAGCAATTTGGGACGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTCAGACCAGCCCAGGCAACGTAGCAAGACCCCATCTCTACAAAAATGTTTAAAACCTAACCAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>15506756>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15506756>15506758,>15506756>15506757>15506758; CONFLICT=HG03098; LV=0; NS=45; e=128574947; s=332; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 332
splitAnnotation_mode : split
LINC01565Gene_name : LINC01565;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 98.74
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23434
intron2-intron2Location : intron2-intron2
CytoBand : q21.3
Location2 : UTR
Tx : NR_125802
Tx_version : 1
Tx_start : 128571999
Tx_end : 128576086
Exon_count : 3
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 318
Nearest_SS_type : 5'
Intersect_start : 128574946
Intersect_end : 128574947
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr3:128572157-128603657; chr3:128574628-128574993
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573
B_loss_AFmax : 0.0446
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG03453Samples_ID : CHM13,HG03453
>15506756>15506758ID : >15506756>15506758
GREF : G
GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGA[...]ALT : GGAATGGCAGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAGACAAAATAATTGTCTTTTAATGACTTTAAAAGACATTGAGGTGGGTGTGGGGCTCATGCCTGTAATCCCAGCAATTTGGGACGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTCAGACCAGCCCAGGCAACGTAGCAAGACCCCATCTCTACAAAAATGTTTAAAACCTAACCAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>15506756>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15506756>15506758,>15506756>15506757>15506758; CONFLICT=HG03098; LV=0; NS=45; e=128574947; s=332; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 114
Gene_count : 1
fullAnnotation_mode : full
LOC105374037Gene_name : LOC105374037;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105374036
Closest_right : LOC151760
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148953; dbVar:nssv15148025; dbVar:nssv15146976
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:93800621-145695381; 3:103426883-198110178; 3:104621221-116093884
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147282; dbVar:nssv15146259; dbVar:nssv18842017; dbVar:nssv15147452; dbVar:nssv15128639; dbVar:nssv16207911; dbVar:nssv15149305; dbVar:nssv17976878; dbVar:nssv18330718; dbVar:nssv15119835
po_P_loss_coord : 3:93819624-116887056; 3:93886672-123216683; 3:93979548-124774010; 3:97795370-115663349; 3:101431894-116529740; 3:102093402-112455638; 3:105375991-117723106; 3:106879921-115985849; 3:107340859-115286409; 3:108242573-116169331
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr3:110529680-111046402
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573; chr3:108633893-111492183; chr3:110552035-110575458
B_loss_AFmax : 0.0446
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr3:110529680-111046402 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr3:108633893-111492183 dbVar;
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286; chr3:110552035-110575458 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:110568206-110568822; 3:110568922-110569967
Repeat_type_left : L1MEf; L1MEf
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:110568206-110568822; 3:110568922-110569967
Repeat_type_right : L1MEf; L1MEf
Gap_right : .
GC_content_right : 0.280
CHM13,HG00621,HG00673,HG00741,HG01071,HG01109[...]Samples_ID : CHM13,HG00621,HG00673,HG00741,HG01071,HG01109,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02148,HG02486,HG02723,HG03492,HG03579,NA18906,NA20129,NA21309
>13237643>13237640ID : >13237643>13237640
AREF : A
AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAA[...]ALT : AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAAACAAAATGGAAATTCCAGAATAAAATTCTGAAATAAACATTTACTGGATTAACTTAGGGGCTAAAAGGAC
60QUAL : 60
.FILTER : .
AC=29; AF=0.325843; AN=89; AT=>13237643>[...]INFO : AC=29; AF=0.325843; AN=89; AT=>13237643>13237640,>13237643<13237642>13237641>13237640; LV=0; NS=45; e=110568919; s=114; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|1HG00621 : 0|1
0|1HG00673 : 0|1
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|1HG00741 : 0|1
0|1HG01071 : 0|1
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
1|1HG01175 : 1|1
0|0HG01243 : 0|0
1|1HG01258 : 1|1
0|1HG01358 : 0|1
1|1HG01361 : 1|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|0HG01952 : 1|0
1|1HG01978 : 1|1
0|0HG02055 : 0|0
1|1HG02080 : 1|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|1HG03492 : 1|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|1HG03579 : 0|1
0|1NA18906 : 0|1
0|1NA20129 : 0|1
0|1NA21309 : 0|1
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 114
splitAnnotation_mode : split
LOC105374037Gene_name : LOC105374037;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron3-intron3Location : intron3-intron3
CytoBand : q13.13
Location2 : UTR
Tx : XR_924328
Tx_version : 3
Tx_start : 110554732
Tx_end : 110667293
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 13969
Nearest_SS_type : 3'
Intersect_start : 110568918
Intersect_end : 110568919
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr3:110529680-111046402
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573; chr3:108633893-111492183; chr3:110552035-110575458
B_loss_AFmax : 0.0446
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG00621,HG00673,HG00741,HG01071,HG01109[...]Samples_ID : CHM13,HG00621,HG00673,HG00741,HG01071,HG01109,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02080,HG02148,HG02486,HG02723,HG03492,HG03579,NA18906,NA20129,NA21309
>13237643>13237640ID : >13237643>13237640
AREF : A
AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAA[...]ALT : AAAGTGGTAGAAAGCATCAGCCAGAAAATAAAAACATGAAAATAAACAAAATGGAAATTCCAGAATAAAATTCTGAAATAAACATTTACTGGATTAACTTAGGGGCTAAAAGGAC
60QUAL : 60
.FILTER : .
AC=29; AF=0.325843; AN=89; AT=>13237643>[...]INFO : AC=29; AF=0.325843; AN=89; AT=>13237643>13237640,>13237643<13237642>13237641>13237640; LV=0; NS=45; e=110568919; s=114; rC=LINE/L1
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|1HG00621 : 0|1
0|1HG00673 : 0|1
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|1HG00741 : 0|1
0|1HG01071 : 0|1
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|0HG01123 : 0|0
1|1HG01175 : 1|1
0|0HG01243 : 0|0
1|1HG01258 : 1|1
0|1HG01358 : 0|1
1|1HG01361 : 1|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|0HG01952 : 1|0
1|1HG01978 : 1|1
0|0HG02055 : 0|0
1|1HG02080 : 1|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|1HG03492 : 1|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|1HG03579 : 0|1
0|1NA18906 : 0|1
0|1NA20129 : 0|1
0|1NA21309 : 0|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 100
Gene_count : 1
fullAnnotation_mode : full
LOC101928135Gene_name : LOC101928135;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124909365
Closest_right : ARPP21
.Location : .
CytoBand : p22.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv17969828; dbVar:nssv15149909; dbVar:nssv15149891; nssv15151839; dbVar:nssv15146217; dbVar:nssv15148928; dbVar:nssv15133494; dbVar:nssv15152847; dbVar:nssv15146653
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20214-36668690; 3:20214-37417973; 3:20215-198125115; 3:52267-37148076; 3:53309-41381521; 3:11463329-38919543; 3:16884819-45208431; 3:33728407-40662451
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17971651; dbVar:nssv15119823; dbVar:nssv15133472
po_P_loss_coord : 3:16669459-41233779; 3:32322383-36775606; 3:33062200-36829440
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26B_gain_source : dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26
B_gain_coord : chr3:35207509-35207609; chr3:35207509-35207609
B_gain_AFmax : 0.0234
B_loss_source : esv2672333; gnomAD-SV_v3_DEL_chr3_74d6df2b; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_cc5acaae
B_loss_coord : chr3:11110259-145805573; chr3:16955864-54461038; 3:34907869-35229570; chr3:34907971-35229653
B_loss_AFmax : 0.1881
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr3:35207509-35207609 gnomAD-SV_v3_DUP_chr3_18f79a26
po_B_gain_someG_coord : chr3:35207509-35207609 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr3:16955864-54461038 gnomAD-SV_v3_DEL_chr3_74d6df2b; chr3:34907971-35229653 gnomAD-SV_v3_DEL_chr3_cc5acaae
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286; 3:34907869-35229570 esv2672333
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 3:35207199-35207508; 3:35207509-35207595; 3:35207599-35209186
Repeat_type_left : AluY; L1MC; L1MDa
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 3:35207199-35207508; 3:35207509-35207595; 3:35207599-35209186
Repeat_type_right : AluY; L1MC; L1MDa
Gap_right : .
GC_content_right : 0.320
CHM13,HG01891,HG02109,HG02486,HG02886,HG03453[...]Samples_ID : CHM13,HG01891,HG02109,HG02486,HG02886,HG03453,HG03516
>15671227>15671229ID : >15671227>15671229
TREF : T
TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAA[...]ALT : TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAAGGATGGTGCTGGCTTCAAAGAGTGAATTAGGATGTGTTCTCTCTTCCAATTACATT
60QUAL : 60
.FILTER : .
AC=6; AF=0.0674157; AN=89; AT=>15671227>[...]INFO : AC=6; AF=0.0674157; AN=89; AT=>15671227>15671229,>15671227>15671228>15671229; LV=0; NS=45; e=35207607; s=100; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|1HG03516 : 0|1
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 100
splitAnnotation_mode : split
LOC101928135Gene_name : LOC101928135;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : p22.3
Location2 : UTR
Tx : NR_110817
Tx_version : 1
Tx_start : 34875794
Tx_end : 35394023
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 98863
Nearest_SS_type : 5'
Intersect_start : 35207606
Intersect_end : 35207607
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26B_gain_source : dbVar; gnomAD-SV_v3_DUP_chr3_18f79a26
B_gain_coord : chr3:35207509-35207609; chr3:35207509-35207609
B_gain_AFmax : 0.0234
B_loss_source : esv2672333; gnomAD-SV_v3_DEL_chr3_74d6df2b; gnomAD-SV_v3_DEL_chr3_9b8d4286; gnomAD-SV_v3_DEL_chr3_cc5acaae
B_loss_coord : chr3:11110259-145805573; chr3:16955864-54461038; 3:34907869-35229570; chr3:34907971-35229653
B_loss_AFmax : 0.1881
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01891,HG02109,HG02486,HG02886,HG03453[...]Samples_ID : CHM13,HG01891,HG02109,HG02486,HG02886,HG03453,HG03516
>15671227>15671229ID : >15671227>15671229
TREF : T
TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAA[...]ALT : TAATAGTTTCCTTCCTTGTAATGTCTCAGTATAGTTTTGGTACAAGGATGGTGCTGGCTTCAAAGAGTGAATTAGGATGTGTTCTCTCTTCCAATTACATT
60QUAL : 60
.FILTER : .
AC=6; AF=0.0674157; AN=89; AT=>15671227>[...]INFO : AC=6; AF=0.0674157; AN=89; AT=>15671227>15671229,>15671227>15671228>15671229; LV=0; NS=45; e=35207607; s=100; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|1HG03516 : 0|1
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 192
Gene_count : 1
fullAnnotation_mode : full
RFTN1Gene_name : RFTN1;
LOEUF_bin : 5
GnomAD_pLI : 2.4248e-06
ExAC_pLI : 5.1390e-12
HI : .
TS : .
DDD_HI_percent : 61.2
ExAC_cnvZ : -1.04985386357587
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.577513212122976
ExAC_synZ : 0.041452448018948
ExAC_misZ : -0.343746520172933
Closest_left : LOC124906220
Closest_right : LOC124906219
.Location : .
CytoBand : p24.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv17969827; dbVar:nssv15151098; dbVar:nssv17969828; dbVar:nssv15149909; dbVar:nssv15149891; nssv15151839; dbVar:nssv15145877; dbVar:nssv15147393; dbVar:nssv15146217; dbVar:nssv15148928; dbVar:nssv15146372; dbVar:nssv15153450; dbVar:nssv15152843; dbVar:nssv15133494; dbVar:nssv15163762; dbVar:nssv18326445; dbVar:nssv15139669
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20214-24391330; 3:20214-33916709; 3:20214-36668690; 3:20214-37417973; 3:20215-198125115; 3:32242-20334387; 3:32242-30064208; 3:52267-37148076; 3:53309-41381521; 3:63844-19510600; 3:1856289-19477593; 3:5132186-16718755; 3:11463329-38919543; 3:13234506-24253749; 3:13794844-25315936; 3:14360748-21656134
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17976929; dbVar:nssv15142081
po_P_loss_coord : 3:13371738-20095506; 3:13678724-17766744
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573
B_loss_AFmax : 0.0446
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 3:16453736-16465913
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.240
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 3:16453736-16465913
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.240
CHM13,NA20129Samples_ID : CHM13,NA20129
>15189628>15189630ID : >15189628>15189630
AREF : A
ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG[...]ALT : ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>15189628>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15189628>15189630,>15189628<15189629>15189630; LV=0; NS=45; e=16459763; s=192; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 192
splitAnnotation_mode : split
RFTN1Gene_name : RFTN1;
LOEUF_bin : 5
GnomAD_pLI : 2.4248e-06
ExAC_pLI : 5.1390e-12
HI : .
TS : .
DDD_HI_percent : 61.2
ACMG : .
ExAC_cnvZ : -1.04985386357587
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.577513212122976
ExAC_synZ : 0.041452448018948
ExAC_misZ : -0.343746520172933
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23180
intron2-intron2Location : intron2-intron2
CytoBand : p24.3
Location2 : CDS
Tx : XM_047447779
Tx_version : 1
Tx_start : 16315844
Tx_end : 16472794
Exon_count : 10
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 12197
Nearest_SS_type : 5'
Intersect_start : 16459762
Intersect_end : 16459763
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573
B_loss_AFmax : 0.0446
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,NA20129Samples_ID : CHM13,NA20129
>15189628>15189630ID : >15189628>15189630
AREF : A
ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG[...]ALT : ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>15189628>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>15189628>15189630,>15189628<15189629>15189630; LV=0; NS=45; e=16459763; s=192; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 332
Gene_count : 1
fullAnnotation_mode : full
PLCL1Gene_name : PLCL1;
LOEUF_bin : 2
GnomAD_pLI : 1.2059e-02
ExAC_pLI : 1.1052e-02
HI : .
TS : .
DDD_HI_percent : 27.49
ExAC_cnvZ : 1.3489127128269
ExAC_delZ : 1.06845873118958
ExAC_dupZ : 1.06965476140811
ExAC_synZ : -0.315502596512338
ExAC_misZ : 1.24610427393788
Closest_left : LOC105373828
Closest_right : LINC01923
.Location : .
CytoBand : q33.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv16207855; dbVar:nssv17969793; dbVar:nssv16254741; dbVar:nssv15147432; dbVar:nssv18842075; dbVar:nssv15755802; dbVar:nssv15147151; dbVar:nssv15148951; dbVar:nssv15145778; dbVar:nssv15145678
po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:162376653-211062464; 2:168973465-214656712; 2:177533232-242065306; 2:180513794-224302848; 2:185833778-223053393; 2:188062202-224433936; 2:188818196-242065208; 2:189436150-241841232; 2:190310737-241892770; 2:194898784-236473913
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124851; dbVar:nssv15146209; dbVar:nssv15146426; dbVar:nssv15133598; dbVar:nssv17976941; dbVar:nssv15133754; dbVar:nssv18330771; dbVar:nssv15162684; dbVar:nssv18330068; dbVar:nssv16252261; dbVar:nssv15152822; dbVar:nssv15152716; dbVar:nssv15145974; dbVar:nssv15141794; dbVar:nssv15132676; dbVar:nssv15776705; dbVar:nssv15142564; dbVar:nssv15148041; dbVar:nssv15124134; dbVar:nssv16296948; dbVar:nssv17969800; dbVar:nssv15138416; dbVar:nssv15147306
po_P_loss_coord : 2:50659295-242160331; 2:174898849-203941548; 2:176304446-202039790; 2:177874071-198525492; 2:184832933-212137349; 2:186027473-201059372; 2:186288028-199095802; 2:188625764-199750773; 2:189045179-208603658; 2:189480547-199347566; 2:190885477-201432653; 2:192673202-201163013; 2:192938827-215705052; 2:193716592-200887699; 2:194515160-198545937; 2:194922000-199666404; 2:195368552-200214331; 2:195660595-203969488; 2:195716654-200082318; 2:196494301-200518739; 2:196721758-199929147; 2:197125461-199741748; 2:197400024-202089348
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : DDD:8464; dbVar; gnomAD-SV_v3_DEL_chr2_98935ad0; gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659; chr2:197893260-197897841; 2:197893672-197896915; chr2:197893672-197896915; chr2:197893672-197896915
B_loss_AFmax : 0.0174
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr2:197893260-197897841 dbVar; chr2:197893672-197896915 dbVar;
po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047; 2:197893672-197896915 DDD:8464; chr2:197893672-197896915 gnomAD-SV_v3_DEL_chr2_98935ad0
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.355
CHM13,HG02886Samples_ID : CHM13,HG02886
>11316699>11316701ID : >11316699>11316701
TREF : T
TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTACAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>11316699>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11316699>11316701,>11316699>11316700>11316701; LV=0; NS=45; e=197896909; s=332; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 332
splitAnnotation_mode : split
PLCL1Gene_name : PLCL1;
LOEUF_bin : 2
GnomAD_pLI : 1.2059e-02
ExAC_pLI : 1.1052e-02
HI : .
TS : .
DDD_HI_percent : 27.49
ACMG : .
ExAC_cnvZ : 1.3489127128269
ExAC_delZ : 1.06845873118958
ExAC_dupZ : 1.06965476140811
ExAC_synZ : -0.315502596512338
ExAC_misZ : 1.24610427393788
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5334
intron1-intron1Location : intron1-intron1
CytoBand : q33.1
Location2 : CDS
Tx : NM_006226
Tx_version : 4
Tx_start : 197804592
Tx_end : 198149863
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 91569
Nearest_SS_type : 5'
Intersect_start : 197896908
Intersect_end : 197896909
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : DDD:8464; dbVar; gnomAD-SV_v3_DEL_chr2_98935ad0; gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659; chr2:197893260-197897841; 2:197893672-197896915; chr2:197893672-197896915; chr2:197893672-197896915
B_loss_AFmax : 0.0174
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02886Samples_ID : CHM13,HG02886
>11316699>11316701ID : >11316699>11316701
TREF : T
TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCC[...]ALT : TAAAATTACGCTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTACAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>11316699>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>11316699>11316701,>11316699>11316700>11316701; LV=0; NS=45; e=197896909; s=332; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 210
Gene_count : 1
fullAnnotation_mode : full
LINC01885Gene_name : LINC01885;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01789
Closest_right : LINC01886
.Location : .
CytoBand : q12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv15148156; dbVar:nssv15149422; dbVar:nssv15152720; dbVar:nssv15147149; dbVar:nssv15146324; dbVar:nssv15147463; dbVar:nssv15151697
po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:94678533-110602409; 2:94863295-107901810; 2:95687283-113287886; 2:97672523-110211318; 2:100378511-108472871; 2:101710826-110791418; 2:106479968-111478150
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15146967; dbVar:nssv17956361; dbVar:nssv15152708; dbVar:nssv16254438; dbVar:nssv15160827
po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:105806854-114297251; 2:106404327-109451929; 2:106404327-110608419; 2:106413225-112430165; 2:106445029-107839483
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr2:107069940-107427059; chr2:107278045-108189618; chr2:107365165-107424514
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883
B_loss_coord : chr2:106014408-123234450; chr2:106244543-107911544; chr2:107365165-107424514
B_loss_AFmax : 0.2151
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr2:107278045-108189618 dbVar;
po_B_gain_someG_coord : chr2:107069940-107427059 dbVar; chr2:107365165-107424514 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr2:106244543-107911544 dbVar;
po_B_loss_someG_coord : chr2:106014408-123234450 gnomAD-SV_v3_DEL_chr2_8881e883; chr2:107365165-107424514 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:107417209-107417632
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:107417209-107417632
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.385
CHM13,HG02145Samples_ID : CHM13,HG02145
>9691118>9691120ID : >9691118>9691120
GREF : G
GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCG[...]ALT : GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>9691118>9[...]INFO : AC=1; AF=0.011236; AN=89; AT=>9691118>9691120,>9691118<9691119>9691120; LV=0; NS=45; e=107417308; s=210; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 210
splitAnnotation_mode : split
LINC01885Gene_name : LINC01885;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105373538
intron2-intron2Location : intron2-intron2
CytoBand : q12.3
Location2 : UTR
Tx : NR_183423
Tx_version : 1
Tx_start : 107382687
Tx_end : 107542571
Exon_count : 6
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 524
Nearest_SS_type : 3'
Intersect_start : 107417307
Intersect_end : 107417308
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr2:107069940-107427059; chr2:107278045-108189618; chr2:107365165-107424514
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr2_8881e883
B_loss_coord : chr2:106014408-123234450; chr2:106244543-107911544; chr2:107365165-107424514
B_loss_AFmax : 0.2151
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02145Samples_ID : CHM13,HG02145
>9691118>9691120ID : >9691118>9691120
GREF : G
GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCG[...]ALT : GCTCTACTAAAAATACAAAAAATCAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>9691118>9[...]INFO : AC=1; AF=0.011236; AN=89; AT=>9691118>9691120,>9691118<9691119>9691120; LV=0; NS=45; e=107417308; s=210; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 329
Gene_count : 1
fullAnnotation_mode : full
LINC01364Gene_name : LINC01364;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LMO4
Closest_right : LOC105378833
.Location : .
CytoBand : p22.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv16255170; dbVar:nssv15148057
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:80338818-89024701; 1:83457326-104273917
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15143555; dbVar:nssv17969920; dbVar:nssv15149488; dbVar:nssv15136913
po_P_loss_coord : 1:63855594-87687986; 1:67714611-92266400; 1:71578862-92039534; 1:76419303-88628464
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8
B_loss_coord : chr1:13203398-167621949
B_loss_AFmax : 0.1676
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 1:87359029-87359204
Repeat_type_left : MIR3
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 1:87359029-87359204
Repeat_type_right : MIR3
Gap_right : .
GC_content_right : 0.395
CHM13,HG02622,HG03486Samples_ID : CHM13,HG02622,HG03486
>980793>980795ID : >980793>980795
AREF : A
AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC[...]ALT : AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>980793>9[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>980793>980795,>980793>980794>980795; LV=0; NS=45; e=87359228; s=329; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
1|0HG02622 : 1|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
1|0HG03486 : 1|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 329
splitAnnotation_mode : split
LINC01364Gene_name : LINC01364;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100505768
intron1-intron1Location : intron1-intron1
CytoBand : p22.3
Location2 : UTR
Tx : NR_038324
Tx_version : 1
Tx_start : 87353523
Tx_end : 87371655
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1549
Nearest_SS_type : 3'
Intersect_start : 87359227
Intersect_end : 87359228
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8
B_loss_coord : chr1:13203398-167621949
B_loss_AFmax : 0.1676
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG02622,HG03486Samples_ID : CHM13,HG02622,HG03486
>980793>980795ID : >980793>980795
AREF : A
AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC[...]ALT : AGAATCACCACGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>980793>9[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>980793>980795,>980793>980794>980795; LV=0; NS=45; e=87359228; s=329; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
1|0HG02622 : 1|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
1|0HG03486 : 1|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 317
Gene_count : 1
fullAnnotation_mode : full
HIVEP3Gene_name : HIVEP3;
LOEUF_bin : 1
GnomAD_pLI : 9.0584e-01
ExAC_pLI : 3.0811e-02
HI : 1
TS : .
DDD_HI_percent : 41.45
ExAC_cnvZ : 0.740013779683848
ExAC_delZ : 0.390621934115917
ExAC_dupZ : 0.623059658099196
ExAC_synZ : -0.140335199451918
ExAC_misZ : 0.238553628190046
Closest_left : LOC128125817
Closest_right : LOC124904160
.Location : .
CytoBand : p34.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15156967; dbVar:nssv15156970; dbVar:nssv15149867; nssv15151118; dbVar:nssv17969317
po_P_gain_coord : 1:47852-248934250; 1:82155-248924793; 1:914088-248930485; 1:32819982-47426139
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15146565; dbVar:nssv17969797; dbVar:nssv15146490; dbVar:nssv15145658; dbVar:nssv15138336; dbVar:nssv15123785
po_P_loss_coord : 1:38108666-42327551; 1:38213874-42090621; 1:40462416-44668040; 1:40693290-44514104; 1:40834405-43123071; 1:40877937-42655836
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8
B_loss_coord : chr1:13203398-167621949
B_loss_AFmax : 0.1676
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr1:13203398-167621949 gnomAD-SV_v3_DEL_chr1_cf5f2df8
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 1:41944456-41948886
Repeat_type_left : HERV17-int
Gap_left : .
GC_content_left : 0.425
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 1:41944456-41948886
Repeat_type_right : HERV17-int
Gap_right : .
GC_content_right : 0.425
CHM13,HG01891,HG02145,HG02572,HG02717,HG02723[...]Samples_ID : CHM13,HG01891,HG02145,HG02572,HG02717,HG02723,HG03453,HG03579,NA20129,NA21309
>907873>907875ID : >907873>907875
GREF : G
GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA[...]ALT : GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>907873>90[...]INFO : AC=9; AF=0.101124; AN=89; AT=>907873>907875,>907873>907874>907875; LV=0; NS=45; e=41948736; s=317; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|0HG01891 : 1|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
1|0HG02717 : 1|0
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|1HG03579 : 0|1
0|0NA18906 : 0|0
0|1NA20129 : 0|1
1|0NA21309 : 1|0
full=NAACMG_class : full=NA
INSSV_type : INS
SV_length : 317
splitAnnotation_mode : split
HIVEP3Gene_name : HIVEP3;
LOEUF_bin : 1
GnomAD_pLI : 9.0584e-01
ExAC_pLI : 3.0811e-02
HI : 1
TS : 0
DDD_HI_percent : 41.45
ACMG : .
ExAC_cnvZ : 0.740013779683848
ExAC_delZ : 0.390621934115917
ExAC_dupZ : 0.623059658099196
ExAC_synZ : -0.140335199451918
ExAC_misZ : 0.238553628190046
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 59269
intron1-intron1Location : intron1-intron1
CytoBand : p34.2
Location2 : UTR
Tx : NR_038261
Tx_version : 2
Tx_start : 41847188
Tx_end : 42035934
Exon_count : 4
Overlapped_tx_length : 1
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 30211
Nearest_SS_type : 3'
Intersect_start : 41948735
Intersect_end : 41948736
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr1_cf5f2df8
B_loss_coord : chr1:13203398-167621949
B_loss_AFmax : 0.1676
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
CHM13,HG01891,HG02145,HG02572,HG02717,HG02723[...]Samples_ID : CHM13,HG01891,HG02145,HG02572,HG02717,HG02723,HG03453,HG03579,NA20129,NA21309
>907873>907875ID : >907873>907875
GREF : G
GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA[...]ALT : GTGGAAATTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>907873>90[...]INFO : AC=9; AF=0.101124; AN=89; AT=>907873>907875,>907873>907874>907875; LV=0; NS=45; e=41948736; s=317; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|0HG01891 : 1|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
1|0HG02717 : 1|0
1|0HG02723 : 1|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|1HG03579 : 0|1
0|0NA18906 : 0|0
0|1NA20129 : 0|1
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 342
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : CCNYL6
Closest_right : ZNF43
.Location : .
CytoBand : p12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15173860; dbVar:nssv15150638; nssv15150782; dbVar:nssv15173861; dbVar:nssv15147244; dbVar:nssv15147146; dbVar:nssv15145840; dbVar:nssv15174494; dbVar:nssv15146318; dbVar:nssv17955801
po_P_gain_coord : 19:68030-58598923; 19:260913-58445521; 19:260913-58585793; 19:11227943-44626354; 19:13974678-27839676; 19:15133595-24193591; 19:16415977-24448802; 19:17176768-34924150; 19:19436115-40807324
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr19:21745689-23195418
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr19_056b5f14
B_loss_coord : chr19:20405198-22925354; chr19:21702791-21824952; chr19:21736435-21849023; chr19:21774128-21789805; chr19:21774806-21788569
B_loss_AFmax : 0.2957
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr19:21745689-23195418 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr19:21702791-21824952 dbVar; chr19:21774128-21789805 dbVar;
po_B_loss_someG_coord : chr19:20405198-22925354 gnomAD-SV_v3_DEL_chr19_056b5f14; chr19:21736435-21849023 dbVar; chr19:21774806-21788569 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 19:21775160-21776666
Repeat_type_left : SVA_D
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 19:21775160-21776666
Repeat_type_right : SVA_D
Gap_right : .
GC_content_right : 0.500
CHM13,HG03579Samples_ID : CHM13,HG03579
>71673288>71673290ID : >71673288>71673290
CREF : C
CGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA[...]ALT : CGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCATCACCACTCC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>71673288>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>71673288>71673290,>71673288<71673289>71673290; LV=0; NS=45; e=21776479; s=342; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
1|0HG03579 : 1|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 317
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01444
Closest_right : LOC644669
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15147091; dbVar:nssv17976993; dbVar:nssv15174218; dbVar:nssv15173597; dbVar:nssv15146418; dbVar:nssv15146417; dbVar:nssv15147412; dbVar:nssv15148900; dbVar:nssv15146776; nssv15149912; nssv15153905; nssv17969149; dbVar:nssv15151158; dbVar:nssv15151280; dbVar:nssv17956154; dbVar:nssv15148237; nssv17969152; dbVar:nssv15149976; dbVar:nssv15148196; nssv15150633; dbVar:nssv15147095; dbVar:nssv15145762; dbVar:nssv15146335; nssv15148275; dbVar:nssv15147988; dbVar:nssv15147431; dbVar:nssv15147830; dbVar:nssv15147673; dbVar:nssv15152479; dbVar:nssv15146422; dbVar:nssv15146747; dbVar:nssv15148471; dbVar:nssv15139897; dbVar:nssv15151212
po_P_gain_coord : 18:10002-15380684; 18:10002-80259271; 18:12843-80257297; 18:13035-80257297; 18:53346-20948503; 18:53346-80209986; 18:118761-80254946; 18:136227-15175006; 18:136227-15198991; 18:136227-20941324; 18:136227-24077826; 18:136227-27672312; 18:136227-80256240; 18:136228-48644682; 18:136228-80256240; 18:148964-21040153; 18:148964-80244381; 18:148964-80252149; 18:149090-80234391; 18:149090-80254936; 18:163324-80247302; 18:163324-80247353; 18:958974-15181667; 18:1919685-15325188; 18:8779844-24685379; 18:12254329-25682785; 18:13340113-23409879; 18:14869206-80256240
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18792749; dbVar:nssv17955800; dbVar:nssv16208662; dbVar:nssv15151600; dbVar:nssv15127405; dbVar:nssv15147565; dbVar:nssv16208986; dbVar:nssv15152480; dbVar:nssv15151881; nssv17969150; dbVar:nssv16208516; dbVar:nssv17955847; dbVar:nssv16254982
po_P_loss_coord : 18:10002-15400036; 18:10502-15410399; 18:13035-15330526; 18:13035-15375879; 18:14276-20949945; 18:14317-15328500; 18:136227-15175006; 18:136227-15198990; 18:136227-15198991; 18:136227-20949617; 18:1262334-55587520; 18:7598176-15410899
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr18:15066905-15205860
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr18:14682499-15296001
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr18:15066905-15205860 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr18:14682499-15296001 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 18:15106777-15390842; 18:15165189-15178378; 18:15165189-15178378; 18:15165189-15183877; 18:15165189-15183884; 18:15165189-15183888; 18:15165189-15183890; 18:15165190-15183891; 18:15165199-15183011; 18:15165261-15171689; 18:15165269-15171688; 18:15165269-15171688; 18:15165269-15171688; 18:15165325-15183890; 18:15165341-15174990; 18:15165341-15178378; 18:15165341-15183857; 18:15165341-15183890; 18:15165347-15183890; 18:15165348-15171602; 18:15165348-15181372; 18:15165348-15226568; 18:15165351-15171688; 18:15165351-15171689; 18:15165351-15171689; 18:15165499-15193021
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.250
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 18:15106777-15390842; 18:15165189-15178378; 18:15165189-15178378; 18:15165189-15183877; 18:15165189-15183884; 18:15165189-15183888; 18:15165189-15183890; 18:15165190-15183891; 18:15165199-15183011; 18:15165261-15171689; 18:15165269-15171688; 18:15165269-15171688; 18:15165269-15171688; 18:15165325-15183890; 18:15165341-15174990; 18:15165341-15178378; 18:15165341-15183857; 18:15165341-15183890; 18:15165347-15183890; 18:15165348-15171602; 18:15165348-15181372; 18:15165348-15226568; 18:15165351-15171688; 18:15165351-15171689; 18:15165351-15171689; 18:15165499-15193021
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.250
CHM13,HG02723Samples_ID : CHM13,HG02723
>69819456>69819454ID : >69819456>69819454
GREF : G
GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG[...]ALT : GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATATTATTG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>69819456>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>69819456>69819454,>69819456<69819455>69819454; LV=0; NS=45; e=15166303; s=317; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 328
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105371959
Closest_right : LOC105371958
.Location : .
CytoBand : p11.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15147091; dbVar:nssv17976993; dbVar:nssv15174218; dbVar:nssv15173597; dbVar:nssv15148163; dbVar:nssv17976674; dbVar:nssv15146418; dbVar:nssv15146417; dbVar:nssv15147372; dbVar:nssv15147412; dbVar:nssv15120382; dbVar:nssv15146781; dbVar:nssv17969147; dbVar:nssv15153904; dbVar:nssv15148900; dbVar:nssv15146776; nssv15149912; nssv15153905; nssv17969149; dbVar:nssv15151158; dbVar:nssv15151280; dbVar:nssv17956154; dbVar:nssv15148237; nssv17969152; dbVar:nssv15149976; dbVar:nssv15148196; nssv15150633; dbVar:nssv15148050; dbVar:nssv15147095; dbVar:nssv15133614; dbVar:nssv15145762; dbVar:nssv15146335; nssv15148275; dbVar:nssv15137988; dbVar:nssv15147988; dbVar:nssv15147431; dbVar:nssv15146963; dbVar:nssv15147830; dbVar:nssv15147673; dbVar:nssv15121122; dbVar:nssv15147569; nssv15153169; dbVar:nssv15152479
po_P_gain_coord : 18:10002-15380684; 18:10002-80259271; 18:12843-80257297; 18:13035-80257297; 18:14317-14206225; 18:47391-14854038; 18:53346-20948503; 18:53346-80209986; 18:118761-14089410; 18:118761-80254946; 18:131501-4421014; 18:136227-14337134; 18:136227-14384327; 18:136227-15157837; 18:136227-15175006; 18:136227-15198991; 18:136227-20941324; 18:136227-24077826; 18:136227-27672312; 18:136227-80256240; 18:136228-48644682; 18:136228-80256240; 18:148964-14081888; 18:148964-21040153; 18:148964-2221286; 18:148964-80244381; 18:148964-80252149; 18:149090-5458472; 18:149090-80234391; 18:149090-80254936; 18:163324-15102599; 18:163324-80247302; 18:163324-80247353; 18:180231-4199943; 18:416491-8638372; 18:958974-15181667
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150750; dbVar:nssv18792749; dbVar:nssv18326322; dbVar:nssv17955800; dbVar:nssv15151907; dbVar:nssv16208662; dbVar:nssv15151600; dbVar:nssv15130561; dbVar:nssv15128089; dbVar:nssv15127405; dbVar:nssv15128420; dbVar:nssv15147574; dbVar:nssv15147565; dbVar:nssv15148923; dbVar:nssv15134419; dbVar:nssv17650012; dbVar:nssv15137462; dbVar:nssv15146527; dbVar:nssv15146463; dbVar:nssv15146728; dbVar:nssv15147522; dbVar:nssv15134538; dbVar:nssv15137735; dbVar:nssv15136586; dbVar:nssv15148875; dbVar:nssv15174219; dbVar:nssv15147189; dbVar:nssv15147175; dbVar:nssv15146528; dbVar:nssv15121941; dbVar:nssv15145886; dbVar:nssv15152476; dbVar:nssv17976907; dbVar:nssv15155582; dbVar:nssv17969146; dbVar:nssv16208985; dbVar:nssv17977099; dbVar:nssv17969148; dbVar:nssv15150379; dbVar:nssv16208986; dbVar:nssv15152480; dbVar:nssv15151881; nssv17969150; dbVar:nssv16208516; dbVar:nssv15138130; dbVar:nssv16255074; dbVar:nssv16208981; dbVar:nssv15137029; dbVar:nssv15139629; dbVar:nssv15152473; dbVar:nssv15141983; dbVar:nssv16208512; dbVar:nssv17969145; dbVar:nssv17976908; dbVar:nssv15156230; dbVar:nssv18329625; dbVar:nssv18330775; dbVar:nssv16208515; dbVar:nssv15148109; dbVar:nssv15146561; dbVar:nssv15146560; dbVar:nssv15145673; dbVar:nssv15145680; nssv15146802; dbVar:nssv15136339; dbVar:nssv15135459; dbVar:nssv15133988; dbVar:nssv15136818; dbVar:nssv18841839; dbVar:nssv15149109; dbVar:nssv15148103; dbVar:nssv16208513; dbVar:nssv15148944; dbVar:nssv16208514; dbVar:nssv17955847
po_P_loss_coord : 18:10002-15157837; 18:10002-15400036; 18:10002-8638262; 18:10502-15410399; 18:13035-15026310; 18:13035-15330526; 18:13035-15375879; 18:14276-12811388; 18:14276-13649734; 18:14276-20949945; 18:14276-8779843; 18:14317-10784608; 18:14317-15328500; 18:48783-14978076; 18:53345-7029134; 18:64997-6838316; 18:85433-7094700; 18:112260-14122522; 18:112260-9135777; 18:118761-14089410; 18:118761-15024003; 18:118761-4342182; 18:118761-4470508; 18:118761-6275718; 18:118761-8999132; 18:124336-14139007; 18:131701-10536767; 18:131701-14226905; 18:131701-15121055; 18:131701-3279166; 18:133158-14089410; 18:136227-10074736; 18:136227-10172944; 18:136227-12767080; 18:136227-13655147; 18:136227-13894430; 18:136227-14632437; 18:136227-14983939; 18:136227-15157837; 18:136227-15175006; 18:136227-15198990; 18:136227-15198991; 18:136227-20949617; 18:136227-2994136; 18:136227-3415480; 18:136227-3502495; 18:136227-4002983; 18:136227-4802275; 18:136227-4925311; 18:136227-5323942; 18:136227-5407840; 18:136227-6103500; 18:136227-7131133; 18:136227-8057396; 18:136228-11283185; 18:136228-7218596; 18:136305-15143715; 18:148964-10900517; 18:148964-13068104; 18:148964-13530126; 18:148964-13715860; 18:148964-14081888; 18:148964-1949961; 18:148964-2313458; 18:148964-6086668; 18:149090-5276567; 18:158287-14124574; 18:163324-14103972; 18:180230-10762632; 18:544118-5679225; 18:958975-11954935; 18:971295-11250448; 18:1262334-55587520
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr18:1723989-2065652
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr18:1732356-1939436; chr18:1785704-1924634; chr18:1859084-1887748
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr18:1723989-2065652 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr18:1785704-1924634 dbVar;
po_B_loss_someG_coord : chr18:1732356-1939436 dbVar; chr18:1859084-1887748 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 18:1861468-1862003
Repeat_type_left : MER41B
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 18:1861468-1862003
Repeat_type_right : MER41B
Gap_right : .
GC_content_right : 0.390
CHM13,HG03540Samples_ID : CHM13,HG03540
>69419204>69419206ID : >69419204>69419206
TREF : T
TTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA[...]ALT : TTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCCGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGAAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>69419204>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>69419204>69419206,>69419204>69419205>69419206; LV=0; NS=45; e=1861938; s=328; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 289
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : ZNF652-AS1
Closest_right : PHB1
.Location : .
CytoBand : q21.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626
po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15151905; dbVar:nssv15146525; dbVar:nssv15120738; dbVar:nssv15137349
po_P_loss_coord : 17:36382249-83103577; 17:48403728-53319007; 17:48520886-49511208; 17:49137865-52147810; 17:49361156-50269440
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr17:49389253-49400471; chr17:49392314-49393212
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr17:49392314-49393212 dbVar
po_B_gain_someG_coord : chr17:49389253-49400471 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 17:49392805-49392919; 17:49392929-49392967; 17:49392972-49393020; 17:49393033-49393323
Repeat_type_left : LTR9B; (ATTT)n; AluYk11; AluSq2
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 17:49392805-49392919; 17:49392929-49392967; 17:49392972-49393020; 17:49393033-49393323
Repeat_type_right : LTR9B; (ATTT)n; AluYk11; AluSq2
Gap_right : .
GC_content_right : 0.435
CHM13,HG01071,HG01952,HG02109,HG02145,HG02148[...]Samples_ID : CHM13,HG01071,HG01952,HG02109,HG02145,HG02148,HG02559,HG02622,HG02630,HG02717,HG02818,HG03516,HG03579
>66522473>66522475ID : >66522473>66522475
TREF : T
TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCT[...]ALT : TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTTTTTTTTTTGAGATGGAGTCTTGCTCTATCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCTATCTCTTGATTTCATGATCCGCCTGCCTCGGCCT
60QUAL : 60
.FILTER : .
AC=14; AF=0.157303; AN=89; AT=>66522473>[...]INFO : AC=14; AF=0.157303; AN=89; AT=>66522473>66522475,>66522473>66522474>66522475; LV=0; NS=45; e=49392977; s=289; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
1|0HG01952 : 1|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|1HG02145 : 0|1
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
1|1HG02622 : 1|1
1|0HG02630 : 1|0
0|1HG02717 : 0|1
0|0HG02723 : 0|0
1|1HG02818 : 1|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
1|0HG03579 : 1|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 166
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : HOXB1
Closest_right : HOXB2
.Location : .
CytoBand : q21.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SP6 (morbid/RE=GH_promoter_enhancer); HOXB1 ([...]RE_gene : SP6 (morbid/RE=GH_promoter_enhancer); HOXB1 (morbid/RE=GH_promoter_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15127236; dbVar:nssv15146325; dbVar:nssv15147369; dbVar:nssv15149626
po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:16854250-83103577; 17:36449221-68170214; 17:36449221-75053130; 17:44503317-83137846
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127168; dbVar:nssv15146046; dbVar:nssv15151905; dbVar:nssv15146525
po_P_loss_coord : 17:36382249-83103577; 17:47986887-49329397; 17:48403728-53319007; 17:48520886-49511208
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : 1000g; dbVar; esv2657148; esv3640717
B_loss_coord : chr17:48538431-48539909; 17:48538432-48539909; 17:48538432-48539909; 17:48538439-48539858
B_loss_AFmax : 0.3085
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 17:48538432-48539909 1000g; 17:48538439-48539858 esv2657148
po_B_loss_someG_coord : chr17:48538431-48539909 dbVar; 17:48538432-48539909 esv3640717
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.440
CHM13,HG00438,HG00621,HG00673,HG00733,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00741,HG01071,HG01106,HG01109,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02145,HG02148,HG02257,HG02559,HG02630,HG02717,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,NA18906,NA20129
>66502557>66502559ID : >66502557>66502559
AREF : A
ACGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACAT[...]ALT : ACGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCTCATCTTTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCAGGTACCTGAGGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGAAGGTGGAGGTTG
60QUAL : 60
.FILTER : .
AC=58; AF=0.651685; AN=89; AT=>66502557>[...]INFO : AC=58; AF=0.651685; AN=89; AT=>66502557>66502559,>66502557>66502558>66502559; LV=0; NS=45; e=48539858; s=166; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
0|0HG00735 : 0|0
0|1HG00741 : 0|1
0|1HG01071 : 0|1
0|1HG01106 : 0|1
1|1HG01109 : 1|1
0|0HG01123 : 0|0
1|1HG01175 : 1|1
1|0HG01243 : 1|0
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|1HG01891 : 1|1
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|0HG02109 : 1|0
0|1HG02145 : 0|1
1|1HG02148 : 1|1
1|1HG02257 : 1|1
0|0HG02486 : 0|0
1|1HG02559 : 1|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|1HG02630 : 0|1
0|1HG02717 : 0|1
0|0HG02723 : 0|0
1|1HG02818 : 1|1
0|1HG02886 : 0|1
1|0HG03098 : 1|0
0|1HG03453 : 0|1
1|1HG03486 : 1|1
0|1HG03492 : 0|1
1|0HG03516 : 1|0
0|1HG03540 : 0|1
0|0HG03579 : 0|0
1|1NA18906 : 1|1
0|1NA20129 : 0|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 422
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PRPSAP2
Closest_right : LOC124904114
.Location : .
CytoBand : p11.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : 17p11.2 recurrent (SMS/PLS) region (includes RAI1)
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15149908; nssv15152170; dbVar:nssv15159024; dbVar:nssv15160732; dbVar:nssv15159027; dbVar:nssv15132415; dbVar:nssv15133505; dbVar:nssv15138295; dbVar:nssv15128226; dbVar:nssv15124254; dbVar:nssv15173356; dbVar:nssv15139336; dbVar:nssv15133507; dbVar:nssv15128121; dbVar:nssv15151838; dbVar:nssv15132416; dbVar:nssv15138822; dbVar:nssv16867367; dbVar:nssv15138079; dbVar:nssv15138119; dbVar:nssv15132162; dbVar:nssv15133509; dbVar:nssv15139892; dbVar:nssv15133800; dbVar:nssv15142524; dbVar:nssv15133510; dbVar:nssv15132418; dbVar:nssv18830823; dbVar:nssv15145036; dbVar:nssv15143128; dbVar:nssv15133511; dbVar:nssv15140285; dbVar:nssv15132163; dbVar:nssv15153063; dbVar:nssv15127236; dbVar:nssv15132744; dbVar:nssv15134745; dbVar:nssv15136683; dbVar:nssv15155531; dbVar:nssv16254268; dbVar:nssv15141666; dbVar:nssv15138264; dbVar:nssv15127246; dbVar:nssv15132073; dbVar:nssv15133043; dbVar:nssv15132522; TS3:ISCA-37418; dbVar:nssv15133512; dbVar:nssv17955820; dbVar:nssv15130147; dbVar:nssv18330242; dbVar:nssv15142046
po_P_gain_coord : 17:150734-83084062; 17:157424-83100564; 17:158757-83102004; 17:162554-83100251; 17:15234686-20620700; 17:15259165-20925299; 17:15552363-19014200; 17:15809697-20678097; 17:15863707-20357937; 17:15892827-20427818; 17:16426634-20998588; 17:16656169-20390725; 17:16678211-20473451; 17:16687947-20570624; 17:16692463-20390725; 17:16696709-20492860; 17:16698290-20160056; 17:16699695-20530646; 17:16699817-20492214; 17:16713515-20582527; 17:16713516-20340442; 17:16718416-20546210; 17:16734559-20390697; 17:16747979-20534219; 17:16760818-20429770; 17:16760819-20504849; 17:16761426-20467470; 17:16770856-20422847; 17:16834848-20434869; 17:16836828-20340442; 17:16836828-20357878; 17:16836828-20504849; 17:16853798-20316338; 17:16854250-83103577; 17:16854251-20492169; 17:16854251-20492214; 17:16854251-20560048; 17:16858501-20389584; 17:16858501-20426749; 17:16858501-20436482; 17:16858501-20570955; 17:16873929-20492163; 17:16879233-18970941; 17:16879233-20316151; 17:16879233-20390725; 17:16906715-20309889; 17:16919370-20289856; 17:16925840-20458434; 17:16938850-20314464; 17:17200258-19427715; 17:17331512-19017784
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : 17p11.2 recurrent (SMS/PLS) region (includes RAI1)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15139902; dbVar:nssv15140983; dbVar:nssv15139942; dbVar:nssv15127517; dbVar:nssv15137280; dbVar:nssv15138740; dbVar:nssv15132261; dbVar:nssv15137289; dbVar:nssv15126011; dbVar:nssv15127897; dbVar:nssv15140197; dbVar:nssv15136006; dbVar:nssv15139237; dbVar:nssv15134534; dbVar:nssv15136285; dbVar:nssv15140973; dbVar:nssv15136269; dbVar:nssv17976984; dbVar:nssv15124321; dbVar:nssv15158951; dbVar:nssv15131811; dbVar:nssv17976083; dbVar:nssv15145217; dbVar:nssv15155530; dbVar:nssv15142308; dbVar:nssv15143559; dbVar:nssv15133021; dbVar:nssv15139436; dbVar:nssv15143574; dbVar:nssv15155510; dbVar:nssv15150816; dbVar:nssv15141179; dbVar:nssv15139928; dbVar:nssv15140755; dbVar:nssv15133256; dbVar:nssv15133257; dbVar:nssv15138754; dbVar:nssv16254269; dbVar:nssv15158952; dbVar:nssv15150688; dbVar:nssv15130146; nssv15132265; dbVar:nssv15133799; HI3:ISCA-37418; dbVar:nssv15605914; dbVar:nssv15136704; dbVar:nssv15138509; dbVar:nssv15138641; dbVar:nssv15155532; dbVar:nssv15155533; dbVar:nssv15123501; dbVar:nssv18792800; dbVar:nssv16867364; dbVar:nssv17976985; dbVar:nssv15141075; dbVar:nssv15133753; dbVar:nssv18786275; dbVar:nssv15134647; dbVar:nssv15133289
po_P_loss_coord : 17:15729894-20510251; 17:15842002-20357878; 17:15850860-20649235; 17:15860439-20712095; 17:15883038-20620700; 17:15883038-20658018; 17:15898033-20620700; 17:16656163-20390697; 17:16678211-20531338; 17:16678211-20561007; 17:16699817-20357878; 17:16699817-20390725; 17:16699817-20428292; 17:16734559-20390697; 17:16734589-20316151; 17:16734589-20357937; 17:16734589-20390725; 17:16747979-20383585; 17:16750989-20357937; 17:16757408-20514662; 17:16760819-20390725; 17:16761426-20314065; 17:16770856-20585863; 17:16823951-20406928; 17:16823951-20492576; 17:16823951-20510251; 17:16836828-20465067; 17:16838098-20436415; 17:16838098-20506905; 17:16838098-20527478; 17:16838098-20585710; 17:16842287-20492860; 17:16853121-20436482; 17:16854251-20357878; 17:16858445-20340442; 17:16858445-20465067; 17:16858501-20559337; 17:16860057-20492298; 17:16864935-20488646; 17:16868951-20393778; 17:16879233-20390725; 17:16879234-20390697; 17:16906715-20309889; 17:16939678-20314003; 17:16989088-20370816; 17:17018952-20148630; 17:17067834-19019419; 17:17096667-20395666; 17:17118294-20112665; 17:17150077-19989785; 17:17213656-20314065; 17:17242048-20234630; 17:17247827-20284640; 17:17297113-22374304; 17:17331512-20022528; 17:18856299-20402192; 17:18859290-20316151; 17:18872618-20316151
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:48925; IMH; dbVar; gnomAD-SV_v3_DUP_chr17[...]B_gain_source : DDD:48925; IMH; dbVar; gnomAD-SV_v3_DUP_chr17_200f84d2
B_gain_coord : chr17:18843686-18964187; chr17:18920166-19019319; chr17:18922315-19337136; chr17:18929687-18964187; chr17:18931639-19014522; 17:18940856-19231102; chr17:18942348-18942767; 17:18942348-18942803
B_gain_AFmax : 0.0270
B_loss_source : DDD:48925
B_loss_coord : 17:18940856-19231102
B_loss_AFmax : 0.0142
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr17:18920166-19019319 dbVar; chr17:18929687-18964187 dbVar; 17:18940856-19231102 DDD:48925; 17:18942348-18942803 IMH
po_B_gain_someG_coord : chr17:18843686-18964187 dbVar; chr17:18922315-19337136 gnomAD-SV_v3_DUP_chr17_200f84d2; chr17:18931639-19014522 dbVar; chr17:18942348-18942767 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : 17:18940856-19231102 DDD:48925
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 17:18942338-18942645; 17:18942646-18942756
Repeat_type_left : AluJb; L1MC1
Gap_left : .
GC_content_left : 0.475
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 17:18942338-18942645; 17:18942646-18942756
Repeat_type_right : AluJb; L1MC1
Gap_right : .
GC_content_right : 0.470
CHM13,HG00741,HG01109,HG02257,HG02622,HG02630[...]Samples_ID : CHM13,HG00741,HG01109,HG02257,HG02622,HG02630,HG03453,HG03516
>67867681>67867683ID : >67867681>67867683
CREF : C
CCGGTGACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAAA[...]ALT : CCGGTGACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAATTCTGCTCTGCAAAAGACAGTGTCAAGAGAATGAAAAGACACAGACTGGGAGAAAATAGTTCCCAAAGACATATCTGATAAAGAAGTGTTGTTCAAAATATAGAAAGAACTGGCCACGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTTGAGATCAGCCTGGGCAACAAGGAAAAACACTGTCTCTACCAAAGATATGAAAAAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCCCAGCTACCTAGGGGTGCTGATGTGGGAGGATGGCTTCAGCTAGGGAGGAAGAGGTTACAGTGAGCCGAGATTGAGCCACTGCACTTCAACCC
60QUAL : 60
.FILTER : .
AC=7; AF=0.0786517; AN=89; AT=>67867681>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>67867681>67867683,>67867681>67867682>67867683; CONFLICT=HG03540; LV=0; NS=45; e=18942601; s=422; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
1|0HG00741 : 1|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
1|0HG02257 : 1|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
0|1HG02630 : 0|1
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 2817
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PRSS54
Closest_right : GINS3
.Location : .
CytoBand : q21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15158812; dbVar:nssv15148703; dbVar:nssv15150639; nssv15151292; dbVar:nssv15158813; dbVar:nssv15158224; dbVar:nssv15126469; dbVar:nssv15150356; dbVar:nssv17649855; dbVar:nssv18329628; dbVar:nssv17976066; dbVar:nssv15139966; dbVar:nssv15149003; dbVar:nssv15155487; dbVar:nssv15147081; dbVar:nssv15152203
po_P_gain_coord : 16:11452-90228224; 16:19194-90207973; 16:35882-90088654; 16:38166-90096867; 16:38166-90208287; 16:31974778-90228345; 16:34963122-64475151; 16:46385318-61223349; 16:46469662-62169278; 16:46470057-90088654; 16:49685522-68401712; 16:52899184-90088654; 16:54382139-72419367; 16:56883593-71279975; 16:57017562-89731261
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15131864; dbVar:nssv18787057; nssv18788830; dbVar:nssv15155490; dbVar:nssv18787676
po_P_loss_coord : 16:55457478-63841622; 16:56192237-58734228; 16:56917030-60169686; 16:56982146-58734228
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr16:58336093-58594205
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr16:58336093-58594205 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 16:58370944-58371195
Repeat_type_left : L1ME4b
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 16:58370944-58371195
Repeat_type_right : L1ME4b
Gap_right : .
GC_content_right : 0.345
CHM13,HG02055Samples_ID : CHM13,HG02055
>63550913>63550915ID : >63550913>63550915
GREF : G
GGAAAGTAAGTCTCGGTCTCCCTCTCCCTCTCCCTCTCCCTCTCC[...]ALT : GGAAAGTAAGTCTCGGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCGTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCAAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCGTTCACTCAGTGCTCAATAGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCTGGCCGCCACCCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGAGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGCCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>63550913>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>63550913>63550915,>63550913<63550914>63550915; LV=0; NS=45; e=58370995; s=2817; rC=Retroposon/SVA
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|0HG02055 : 1|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 1926
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC440311
Closest_right : LOC105370989
.Location : .
CytoBand : q26.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15172447; dbVar:nssv15125410; dbVar:nssv15172190; dbVar:nssv15149616; dbVar:nssv15150618; nssv15150717; dbVar:nssv15151655; dbVar:nssv15148445; dbVar:nssv15147594; dbVar:nssv15146047; dbVar:nssv15147575; dbVar:nssv15155456; dbVar:nssv15148989; dbVar:nssv18842022; dbVar:nssv15150223; dbVar:nssv15127211; dbVar:nssv15152390; dbVar:nssv18329320; dbVar:nssv15147350; dbVar:nssv18792794; dbVar:nssv15148063; dbVar:nssv15145749; dbVar:nssv15150522; dbVar:nssv15145997; dbVar:nssv15149683; dbVar:nssv15148118; dbVar:nssv15149918; dbVar:nssv15160618; dbVar:nssv15147300; dbVar:nssv15148222; dbVar:nssv15154750; dbVar:nssv15142075; dbVar:nssv15128461; dbVar:nssv15145751; dbVar:nssv15172303; dbVar:nssv15777257; dbVar:nssv15149947; dbVar:nssv15148919; dbVar:nssv15146202; dbVar:nssv15140336
po_P_gain_coord : 15:19811559-101953337; 15:19858088-101981189; 15:19866421-101920959; 15:20528157-101971413; 15:23319715-101888909; 15:30822845-101814654; 15:41452887-101814595; 15:59005095-101940685; 15:59828461-101920998; 15:64345029-101969707; 15:71036882-101730555; 15:72154950-101920998; 15:74873150-101980689; 15:75768804-101888909; 15:77062334-97586813; 15:77186903-101888909; 15:77220476-101494824; 15:82859677-101810992; 15:83559254-101724387; 15:83711378-101843270; 15:84169154-101904929; 15:84546237-101955238; 15:85397540-101888909; 15:85605056-101971413; 15:85826666-101920998; 15:86355771-98190785; 15:87841920-101920959; 15:87904736-101843270; 15:88676576-98364743; 15:89200699-101888909; 15:89274271-101843270; 15:89274482-101904420; 15:89679238-101978958; 15:89733921-101836558; 15:89744945-101888909; 15:92605577-101888909; 15:93041525-101941326; 15:94033009-101843270; 15:94659221-98236665
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15127755; dbVar:nssv15127602; dbVar:nssv16254726; dbVar:nssv16208431; dbVar:nssv15149575; dbVar:nssv15124429; dbVar:nssv17649872; dbVar:nssv15147236; dbVar:nssv15146790; dbVar:nssv17969025; dbVar:nssv15128195; dbVar:nssv15151294
po_P_loss_coord : 15:23377380-101981189; 15:28917418-101981189; 15:86418823-101981189; 15:86646015-101888909; 15:89803764-101814595; 15:91653907-101814654; 15:91792522-101859538; 15:93198718-101843270; 15:93805033-101326876; 15:94292900-100761906; 15:94470226-101981189; 15:94593594-101505374
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr15:94894836-94929206
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr15:94894836-94929206 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 15:94921019-94921401
Repeat_type_left : MSTA
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 15:94921019-94921401
Repeat_type_right : MSTA
Gap_right : .
GC_content_right : 0.440
CHM13,HG01952Samples_ID : CHM13,HG01952
<61309280<61309278ID : <61309280<61309278
AREF : A
AGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGT[...]ALT : AGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACCGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAATAATAATAATAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTCTA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>61309278>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>61309278>61309280,>61309278>61309279>61309280; LV=0; NS=45; e=94921273; s=1926; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
1|0HG01952 : 1|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 109
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1297
Closest_right : LOC105370213
.Location : .
CytoBand : q14.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17955548; nssv17976992; dbVar:nssv15161090; dbVar:nssv15172692; dbVar:nssv17059476; dbVar:nssv15162474; dbVar:nssv15161751; dbVar:nssv18326470; dbVar:nssv15161513; dbVar:nssv17969571; dbVar:nssv15161108; nssv15776345; nssv17957159; nssv17969572; dbVar:nssv15154678; dbVar:nssv15161661; nssv15161681; dbVar:nssv15161295; dbVar:nssv15161646; dbVar:nssv15161837; dbVar:nssv15161365; dbVar:nssv15161763; dbVar:nssv15161793; dbVar:nssv15161296; nssv15161378; dbVar:nssv15161514; dbVar:nssv15161263; nssv15161581; dbVar:nssv15146675; dbVar:nssv15161082; dbVar:nssv15161297; dbVar:nssv15161759; dbVar:nssv17956080; dbVar:nssv15161298; dbVar:nssv15161752; dbVar:nssv15154676; dbVar:nssv15161430
po_P_gain_coord : 13:18445863-114344403; 13:18456041-114340285; 13:18457098-114341682; 13:18479466-114343053; 13:18484578-114338054; 13:18565049-114327173; 13:18679709-114343462; 13:18850546-114327173; 13:18862147-114216251; 13:18862147-114342258; 13:18862147-73471322; 13:18862148-114342258; 13:18946183-114304628; 13:18997364-114327035; 13:18997364-114327094; 13:19671935-114340331; 13:19833131-114298614; 13:19833131-114327106; 13:19837396-114327173; 13:30318914-83610426; 13:31363473-90575292; 13:31553609-65470367; 13:32531487-86757044; 13:33528098-114327173; 13:41288494-85137552; 13:41930405-107553921; 13:44164752-114327173; 13:44733047-114327173; 13:51365215-66280534; 13:53358224-95934109
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161772; dbVar:nssv15146244; dbVar:nssv17969584; dbVar:nssv17969588; dbVar:nssv15147951; dbVar:nssv15147516; dbVar:nssv15161334; dbVar:nssv15161071; dbVar:nssv17969593; dbVar:nssv15161035; dbVar:nssv17955947; dbVar:nssv15161906; dbVar:nssv15161779; dbVar:nssv15153361; dbVar:nssv15147552; dbVar:nssv16208363; dbVar:nssv16208365; dbVar:nssv15161647
po_P_loss_coord : 13:18445863-114327173; 13:30697729-69471973; 13:32371984-62124084; 13:35802068-80107618; 13:36777319-62955876; 13:37864227-67963788; 13:40942299-114340331; 13:41143821-85137552; 13:41883706-91144444; 13:44967524-92738168; 13:45244912-63336079; 13:46968081-87381985; 13:47117588-84300935; 13:47651317-57496265; 13:47765203-62058520; 13:50938468-90978857; 13:52687879-114342258; 13:52977166-109198303
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr13:54395731-54427170
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr13:54395731-54427170 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 13:54407410-54413976
Repeat_type_left : L1PB1
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 13:54407410-54413976
Repeat_type_right : L1PB1
Gap_right : .
GC_content_right : 0.505
CHM13,HG00621,HG00673,HG01175,HG01258,HG01361[...]Samples_ID : CHM13,HG00621,HG00673,HG01175,HG01258,HG01361,HG01928,HG01978,HG02148
>57176418>57176420ID : >57176418>57176420
TREF : T
TCGGCTCACAGGAAATCATATCCACAGGAAAATGGGGGAGAATAC[...]ALT : TCGGCTCACAGGAAATCATATCCACAGGAAAATGGGGGAGAATACAACACCTAGGGAACACCTCGTGAGACAAAAGAATCTGAACAAAAGCCTTCAGCCCTAGACCTTCC
60QUAL : 60
.FILTER : .
AC=9; AF=0.101124; AN=89; AT=>57176418>[...]INFO : AC=9; AF=0.101124; AN=89; AT=>57176418>57176420,>57176418<57176419>57176420; LV=1; NS=45; PS=>56763715>57588539; e=54408691; s=109; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
1|0HG00621 : 1|0
0|1HG00673 : 0|1
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
1|0HG01175 : 1|0
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
1|1HG01361 : 1|1
0|0HG01891 : 0|0
1|0HG01928 : 1|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 310
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124902966
Closest_right : LINC02445
.Location : .
CytoBand : q21.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17649865; dbVar:nssv15147301; dbVar:nssv15157811; dbVar:nssv17957078; dbVar:nssv15147333; dbVar:nssv15145687
po_P_loss_coord : 12:64857926-74869599; 12:68011418-75383054; 12:69214311-89235568; 12:69690697-76671984; 12:69769738-76964217; 12:70337485-81761145
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr12:73417111-73701709
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr12:73432624-73449218
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr12:73417111-73701709 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr12:73432624-73449218 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.300
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.305
CHM13,HG02572,HG02886,HG03098,HG03453,NA20129Samples_ID : CHM13,HG02572,HG02886,HG03098,HG03453,NA20129
>53976085>53976083ID : >53976085>53976083
TREF : T
TTTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG[...]ALT : TTTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCAATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCT
60QUAL : 60
.FILTER : .
AC=5; AF=0.0561798; AN=89; AT=>53976085>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>53976085>53976083,>53976085>53976084>53976083; LV=0; NS=45; e=73441308; s=310; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
1|0HG02886 : 1|0
1|0HG03098 : 1|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 340
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LRIG3-DT
Closest_right : LINC02448
.Location : .
CytoBand : q14.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15133179; dbVar:nssv15133180
po_P_loss_coord : 12:57013356-63042498; 12:57041159-60273934
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr12:59262341-59610152; chr12:59417980-59610460
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr12:59440699-59490464; chr12:59445875-60579362
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr12:59417980-59610460 dbVar
po_B_gain_someG_coord : chr12:59262341-59610152 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr12:59445875-60579362 dbVar
po_B_loss_someG_coord : chr12:59440699-59490464 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.320
CHM13,HG01978Samples_ID : CHM13,HG01978
>53631250>53631252ID : >53631250>53631252
TREF : T
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGTCAGAT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>53631250>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53631250>53631252,>53631250<53631251>53631252; LV=0; NS=45; e=59455200; s=340; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
1|0HG01978 : 1|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 239
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105369787
Closest_right : LOC105369788
.Location : .
CytoBand : q14.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18792789; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv16208342
po_P_loss_coord : 12:56670276-58920235; 12:57013356-63042498; 12:57041159-60273934; 12:57188381-58638197
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.420
CHM13,HG01123,HG01361,HG02148,HG02486Samples_ID : CHM13,HG01123,HG01361,HG02148,HG02486
>53605522>53605524ID : >53605522>53605524
AREF : A
AAAAAGTCAGGTCACCATCCCGGCTAAAACGGTGAAACCCCGTCT[...]ALT : AAAAAGTCAGGTCACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAGAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=5; AF=0.0561798; AN=89; AT=>53605522>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>53605522>53605524,>53605522<53605523>53605524; LV=0; NS=45; e=58367284; s=239; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
1|0HG01123 : 1|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
1|1HG01361 : 1|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|1HG02486 : 0|1
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 321
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02403
Closest_right : LOC105369786
.Location : .
CytoBand : q14.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18792789; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv16208342
po_P_loss_coord : 12:56670276-58920235; 12:57013356-63042498; 12:57041159-60273934; 12:57188381-58638197
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr12:58163456-58173378; chr12:58166523-58170558
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr12:58166523-58170558 dbVar
po_B_loss_someG_coord : chr12:58163456-58173378 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.415
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.420
CHM13,HG00438Samples_ID : CHM13,HG00438
>53601743>53601745ID : >53601743>53601745
CREF : C
CCCACTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA[...]ALT : CCCACTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCCGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATC
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>53601743>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>53601743>53601745,>53601743<53601744>53601745; LV=0; NS=45; e=58167581; s=321; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|1HG00438 : 0|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 156
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : B4GALNT1
Closest_right : OS9
.Location : .
CytoBand : q13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161620; dbVar:nssv15161414; nssv15161422; dbVar:nssv15171852; dbVar:nssv15161798; dbVar:nssv15171855; dbVar:nssv16207144
po_P_gain_coord : 12:45741-133265309; 12:64622-133201316; 12:82454-133201059; 12:121272-133196807; 12:512055-133202532; 12:55158588-61732523
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18792789; dbVar:nssv15133179; dbVar:nssv15133180; dbVar:nssv16208342; dbVar:nssv18330305
po_P_loss_coord : 12:56670276-58920235; 12:57013356-63042498; 12:57041159-60273934; 12:57188381-58638197; 12:57237291-57842814
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
IMHB_gain_source : IMH
B_gain_coord : 12:57665138-57665376
B_gain_AFmax : 0.1219
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : 12:57665138-57665376 IMH
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 12:57664489-57666343
Repeat_type_left : SVA_A
Gap_left : .
GC_content_left : 0.700
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 12:57664489-57666343
Repeat_type_right : SVA_A
Gap_right : .
GC_content_right : 0.695
CHM13,HG00438,HG00621,HG00733,HG00735,HG00741[...]Samples_ID : CHM13,HG00438,HG00621,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02559,HG02622,HG02717,HG02723,HG03453,HG03486,HG03540,HG03579,NA20129
>53591075>53591077ID : >53591075>53591077
GREF : G
GCTGCCCATCGTCTGGGAGGTGAGGAGCACTTCTGCCTGGCCGCC[...]ALT : GCTGCCCATCGTCTGGGAGGTGAGGAGCACTTCTGCCTGGCCGCCCCATCTAGGAAGTGAGGAGCACCTCTGCCCGGCCACCACCCCCTCTGGGAGGTGGGGAGCGCCTCTGCCTGGCCGCCGCCCCATCTGGGAAGTGAGGAGCGCCTCTGCCCGG
60QUAL : 60
.FILTER : .
AC=40; AF=0.449438; AN=89; AT=>53591075>[...]INFO : AC=40; AF=0.449438; AN=89; AT=>53591075>53591077,>53591075<53591076>53591077; LV=0; NS=45; e=57665347; s=156; rC=Retroposon/SVA
GTFORMAT : GT
1CHM13 : 1
0|1HG00438 : 0|1
0|1HG00621 : 0|1
0|0HG00673 : 0|0
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|0HG00741 : 1|0
1|1HG01071 : 1|1
0|1HG01106 : 0|1
1|0HG01109 : 1|0
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|0HG01358 : 1|0
0|1HG01361 : 0|1
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|1HG01952 : 0|1
1|0HG01978 : 1|0
0|0HG02055 : 0|0
1|0HG02080 : 1|0
0|1HG02109 : 0|1
0|1HG02145 : 0|1
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
1|0HG02622 : 1|0
0|0HG02630 : 0|0
1|0HG02717 : 1|0
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
1|0HG03486 : 1|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|1HG03540 : 0|1
1|0HG03579 : 1|0
0|0NA18906 : 0|0
1|1NA20129 : 1|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 155
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FDX1
Closest_right : ARHGAP20
.Location : .
CytoBand : q22.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15153881; dbVar:nssv15146478; dbVar:nssv17955616; dbVar:nssv15127200
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:71877760-116810202; 11:100348600-135040246; 11:104418237-135067522; 11:106596869-114009007
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15157249; dbVar:nssv15125487; dbVar:nssv17173306; dbVar:nssv16208314; dbVar:nssv15776162; dbVar:nssv16208316; dbVar:nssv18330287
po_P_loss_coord : 11:11814023-118502397; 11:80342411-113445514; 11:88423396-114620616; 11:94420120-112094976; 11:103449338-114479065; 11:104230684-116810202; 11:105828874-114654154; 11:109458062-116544249
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:110523669-110523895
Repeat_type_left : MER112
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:110523669-110523895
Repeat_type_right : MER112
Gap_right : .
GC_content_right : 0.330
CHM13,HG01358,HG01952,HG02080Samples_ID : CHM13,HG01358,HG01952,HG02080
>50182241>50182244ID : >50182241>50182244
TCREF : TC
TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG[...]ALT : TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=3; AF=0.0337079; AN=89; AT=>50182241>[...]INFO : AC=3; AF=0.0337079; AN=89; AT=>50182241>50182242>50182244,>50182241>50182243>50182244; LV=0; NS=45; e=110523823; s=156; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
1|0HG01358 : 1|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|1HG01952 : 0|1
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 309
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : RCOR2
Closest_right : NAA40
.Location : .
CytoBand : q13.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15148908
po_P_loss_coord : 11:11814023-118502397; 11:62893227-64335043
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
HPRC:pbsv.INS.DUP.4740; HPRC:pbsv.SPLIT.DUP.4[...]B_gain_source : HPRC:pbsv.INS.DUP.4740; HPRC:pbsv.SPLIT.DUP.4738; gnomAD-SV_v3_DUP_chr11_37ad04e5
B_gain_coord : chr11:63931434-63934277; chr11:63931434-63934471; chr11:63931435-63934469
B_gain_AFmax : 0.6949
B_loss_source : gnomAD-SV_v3_DEL_chr11_d4c7c871
B_loss_coord : chr11:63931437-63934181
B_loss_AFmax : 0.8708
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr11:63931434-63934471 HPRC:pbsv.SPLIT.DUP.4738;
po_B_gain_someG_coord : chr11:63931434-63934277 gnomAD-SV_v3_DUP_chr11_37ad04e5; chr11:63931435-63934469 HPRC:pbsv.INS.DUP.4740
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr11:63931437-63934181 gnomAD-SV_v3_DEL_chr11_d4c7c871
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:63931117-63931441; 11:63931465-63931498; 11:63931500-63931767
Repeat_type_left : L2b; (TGTG)n; AluSz
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:63931117-63931441; 11:63931465-63931498; 11:63931500-63931767
Repeat_type_right : L2b; (TGTG)n; AluSz
Gap_right : .
GC_content_right : 0.545
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01243,HG01258,HG01358,HG01361,HG01891,HG01928,HG01952,HG01978,HG02080,HG02109,HG02145,HG02148,HG02257,HG02486,HG02559,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03453,HG03486,HG03492,HG03516,HG03540,HG03579,NA20129,NA21309
>52081166>52081164ID : >52081166>52081164
GREF : G
GATATTGCACCACTGCACTCCAGCCTGGGCATCAGAGCGAGACTC[...]ALT : GATATTGCACCACTGCACTCCAGCCTGGGCATCAGAGCGAGACTCCGTCTCAAAAAAGACAAGACAAGAAAAGAAATTTCTAGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGATCAGGAGTTCAATACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAACATTAGCCAGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGAAGGCTGAGGCAGAGAATTGCTTGAACCCAGGTCAGGGTACAAAAGGTCAG
60QUAL : 60
.FILTER : .
AC=64; AF=0.719101; AN=89; AT=>52081166>[...]INFO : AC=64; AF=0.719101; AN=89; AT=>52081166>52081164,>52081166<52081165>52081164; LV=0; NS=45; e=63931437; s=309; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|1HG00673 : 1|1
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|1HG01071 : 1|1
1|0HG01106 : 1|0
0|1HG01109 : 0|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
1|1HG01243 : 1|1
1|1HG01258 : 1|1
1|1HG01358 : 1|1
1|1HG01361 : 1|1
1|0HG01891 : 1|0
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|0HG02055 : 0|0
1|1HG02080 : 1|1
1|1HG02109 : 1|1
1|0HG02145 : 1|0
1|1HG02148 : 1|1
0|1HG02257 : 0|1
1|0HG02486 : 1|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|1HG02630 : 0|1
0|1HG02717 : 0|1
1|0HG02723 : 1|0
1|1HG02818 : 1|1
0|1HG02886 : 0|1
1|0HG03098 : 1|0
1|0HG03453 : 1|0
0|1HG03486 : 0|1
1|1HG03492 : 1|1
0|1HG03516 : 0|1
1|1HG03540 : 1|1
1|1HG03579 : 1|1
0|0NA18906 : 0|0
0|1NA20129 : 0|1
0|1NA21309 : 0|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 406
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : NUP160
Closest_right : PTPRJ
.Location : .
CytoBand : p11.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15161088; dbVar:nssv17976823
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:42727556-49135735; 11:43586337-61699199
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161548; dbVar:nssv15161319; dbVar:nssv15145672
po_P_loss_coord : 11:11814023-118502397; 11:39179253-49135735; 11:41118323-48643003; 11:46840455-48643003
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr11:47825976-47963425; chr11:47841676-48203541; chr11:47841947-48183448; chr11:47882431-47882826
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr11:47841676-48203541 dbVar; chr11:47882431-47882826 dbVar
po_B_gain_someG_coord : chr11:47825976-47963425 dbVar; chr11:47841947-48183448 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:47882687-47882981
Repeat_type_left : AluSx4
Gap_left : .
GC_content_left : 0.565
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:47882687-47882981
Repeat_type_right : AluSx4
Gap_right : .
GC_content_right : 0.565
CHM13Samples_ID : CHM13
>51462413>51462415ID : >51462413>51462415
AREF : A
AGGCGCCTGCCATCACGCCCAGCTAATTTTTTTTTTTTTTTGTAT[...]ALT : AGGCGCCTGCCATCACGCCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCTCTCGATTTGCTGACCTCGTGATCCGCCCGCCTTGGCCTCTCAAAATGCTGGGATTACAAGCATGAGCCACCGCGCCCGGCCTACCTGCAGGATTTTTTAACTTATGGAGGTGACTGCATGATGACATGGAGAAGTCCATGCCATTGAAATAATAATTAATTTATTATTATTTATTAATTTATTTATTTATTTTGAGATGGAGTCTCACTCTGTCACCAAGGCTGGAGTGCAGTGGCCAGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>51462413>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>51462413>51462415,>51462413>51462414>51462415; LV=0; NS=45; e=47882826; s=406; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 181
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105376654
Closest_right : LOC105376655
.Location : .
CytoBand : p11.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15161088; dbVar:nssv17976823
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:42727556-49135735; 11:43586337-61699199
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161504; dbVar:nssv15161548; dbVar:nssv17957277; dbVar:nssv15161319; dbVar:nssv15161569; HI3:ISCA-37441; dbVar:nssv15161276
po_P_loss_coord : 11:11814023-118502397; 11:35663579-46959820; 11:39179253-49135735; 11:40095596-46899167; 11:41118323-48643003; 11:42553660-46114792; 11:43873251-46130899; 11:44136594-46121139
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr11:45391407-45565765
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr11:45391407-45565765 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:45546443-45546782
Repeat_type_left : MLT1B
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:45546443-45546782
Repeat_type_right : MLT1B
Gap_right : .
GC_content_right : 0.430
CHM13,HG00733,HG00735,HG01952,HG02148Samples_ID : CHM13,HG00733,HG00735,HG01952,HG02148
>51422038>51422040ID : >51422038>51422040
TREF : T
TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG[...]ALT : TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTGGCTCCTTTT
60QUAL : 60
.FILTER : .
AC=5; AF=0.0561798; AN=89; AT=>51422038>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>51422038>51422040,>51422038>51422039>51422040; LV=0; NS=45; e=45546444; s=181; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|1HG00733 : 1|1
0|1HG00735 : 0|1
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|1HG01952 : 0|1
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 299
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SYT13
Closest_right : LINC02696
.Location : .
CytoBand : p11.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171978; dbVar:nssv15158476; dbVar:nssv15150306; nssv15150623; dbVar:nssv17976763; dbVar:nssv15161088; dbVar:nssv17976823
po_P_gain_coord : 11:70865-135068576; 11:198511-135064169; 11:230617-135068576; 11:32777936-135068576; 11:42727556-49135735; 11:43586337-61699199
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16867095; dbVar:nssv15161504; dbVar:nssv15161548; dbVar:nssv17957277; dbVar:nssv15161319; dbVar:nssv15161569; HI3:ISCA-37441; dbVar:nssv15161276
po_P_loss_coord : 11:11814023-118502397; 11:35663579-46959820; 11:39179253-49135735; 11:40095596-46899167; 11:41118323-48643003; 11:42553660-46114792; 11:43873251-46130899; 11:44136594-46121139
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr11_d545ba9d
B_loss_coord : chr11:45293705-45293836
B_loss_AFmax : 0.1279
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr11:45293705-45293836 gnomAD-SV_v3_DEL_chr11_d545ba9d
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 11:45293519-45293652
Repeat_type_left : L1ME3A
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 11:45293519-45293652
Repeat_type_right : L1ME3A
Gap_right : .
GC_content_right : 0.450
CHM13,HG00438,HG00733,HG01106,HG01258,HG02148Samples_ID : CHM13,HG00438,HG00733,HG01106,HG01258,HG02148
>51416674>51416676ID : >51416674>51416676
TREF : T
TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT[...]ALT : TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGCATTTTT
60QUAL : 60
.FILTER : .
AC=7; AF=0.0786517; AN=89; AT=>51416674>[...]INFO : AC=7; AF=0.0786517; AN=89; AT=>51416674>51416676,>51416674>51416675>51416676; LV=0; NS=45; e=45293705; s=299; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|1HG00438 : 0|1
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|1HG00733 : 1|1
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
1|1HG01106 : 1|1
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 111
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC101926887
Closest_right : IFIT1B
.Location : .
CytoBand : q23.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
LIPA (morbid/RE=GH_enhancer); RE_gene : LIPA (morbid/RE=GH_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15153829
po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:67280609-91435236
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15125151; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18326418; dbVar:nssv16253902; dbVar:nssv18330784; dbVar:nssv16213461
po_P_loss_coord : 10:12787208-133613639; 10:79925607-133787422; 10:80835717-91782659; 10:81619486-91459412; 10:81773905-90153320; 10:86925631-90384539; 10:88063391-94297184; 10:89338662-89612048
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369; chr10:89347243-89363802
B_loss_AFmax : 0.3941
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2;
po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:89347243-89363802 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 10:89350206-89350315; 10:89350316-89350604
Repeat_type_left : LTR15; AluSx3
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 10:89350206-89350315; 10:89350316-89350604
Repeat_type_right : LTR15; AluSx3
Gap_right : .
GC_content_right : 0.485
CHM13,HG00438,HG00621,HG00673,HG00741,HG01071[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00741,HG01071,HG01258,HG01928,HG02080,HG02148,HG02622,HG02723,HG03579,NA18906
>45145136>45145138ID : >45145136>45145138
CREF : C
CTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTCGCC[...]ALT : CTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATACC
60QUAL : 60
.FILTER : .
AC=15; AF=0.168539; AN=89; AT=>45145136>[...]INFO : AC=15; AF=0.168539; AN=89; AT=>45145136>45145138,>45145136>45145137>45145138; LV=0; NS=45; e=89350315; s=111; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
1|1HG00438 : 1|1
1|1HG00621 : 1|1
1|0HG00673 : 1|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|1HG00741 : 0|1
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|1HG01928 : 0|1
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
1|0HG02622 : 1|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
1|0HG03579 : 1|0
1|0NA18906 : 1|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 673
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124902550
Closest_right : LOC105378400
.Location : .
CytoBand : q23.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148838; dbVar:nssv15153829; dbVar:nssv18842026; dbVar:nssv15146468; dbVar:nssv15153825; dbVar:nssv15146534
po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:50729368-87147204; 10:67280609-91435236; 10:79851605-87504365; 10:79881239-87182117; 10:79884324-87213549; 10:84434982-89150802
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : 10q22.3q23.2 recurrent region (includes BMPR1A)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15147538; dbVar:nssv16254802; dbVar:nssv15146421; dbVar:nssv15146697; dbVar:nssv15147099; dbVar:nssv16254684; dbVar:nssv15150664; dbVar:nssv15150278; nssv16208280; dbVar:nssv16254801; dbVar:nssv17976899; dbVar:nssv15146755; dbVar:nssv15147101; dbVar:nssv15146424; dbVar:nssv15147104; dbVar:nssv15147103; HI3:ISCA-37424; dbVar:nssv15125151; dbVar:nssv15148042; dbVar:nssv15606039; dbVar:nssv15149559; dbVar:nssv15150260; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18326418
po_P_loss_coord : 10:12787208-133613639; 10:79689361-87223773; 10:79697997-87493673; 10:79719430-87358394; 10:79802023-87068261; 10:79802023-87358394; 10:79825546-87341943; 10:79838012-87191590; 10:79857505-87221204; 10:79857505-87387023; 10:79870713-87221204; 10:79881239-87180672; 10:79882163-87068261; 10:79898517-86964367; 10:79898517-87109827; 10:79898517-87358394; 10:79923088-86979631; 10:79925607-133787422; 10:79925614-86951708; 10:79938056-87009090; 10:80132656-86963195; 10:80253505-87406698; 10:80835717-91782659; 10:81619486-91459412; 10:81773905-90153320
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
IMHB_gain_source : IMH
B_gain_coord : 10:84732954-84733750
B_gain_AFmax : 0.0331
B_loss_source : gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369
B_loss_AFmax : 0.3941
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : 10:84732954-84733750 IMH
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2
po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 10:84733226-84733899
Repeat_type_left : L1PA6
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 10:84733226-84733899
Repeat_type_right : L1PA6
Gap_right : .
GC_content_right : 0.440
CHM13,HG00621,HG00733,HG01123,HG02148,HG03492Samples_ID : CHM13,HG00621,HG00733,HG01123,HG02148,HG03492
>48086213>48086211ID : >48086213>48086211
TREF : T
TCATTAAGGACAGAAAACCAAACACCACACCTTCTCACTCATAGG[...]ALT : TCATTAAGGACAGAAAACCAAACACCACACCTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACATGGGGGACTGTTGTGGGTTTGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTACAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACTTTGTGCACATGTATCCTAAAACTTAAAGTATAATAAAAAAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGACAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTACTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTCTAAATCATGTTACTGTAAAGACACACGCATACATATGTTTATTGCGGCACTATTCACAATAGCAAAAACTTGGAACCAACCCAGATGTCCTTCAATGATAGACTGGATTAAGAAAATGTGGCACATATACGCCATGGAATGCTATGCAGCCATAAAAAGGGATGAGTTAATGTCCTTTGCAGGGACATGGATGAAGCTCAAAACCATCATTCTAAGCAAAATAT
60QUAL : 60
.FILTER : .
AC=5; AF=0.0561798; AN=89; AT=>48086213>[...]INFO : AC=5; AF=0.0561798; AN=89; AT=>48086213>48086211,>48086213<48086212>48086211; LV=0; NS=45; e=84733634; s=673; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|1HG00621 : 0|1
0|0HG00673 : 0|0
1|0HG00733 : 1|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|1HG01123 : 0|1
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 209
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02650
Closest_right : LOC107984181
.Location : .
CytoBand : q23.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148838; dbVar:nssv15153829; dbVar:nssv18842026; dbVar:nssv15146468; dbVar:nssv15153825
po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:50729368-87147204; 10:67280609-91435236; 10:79851605-87504365; 10:79881239-87182117; 10:79884324-87213549
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : 10q22.3q23.2 recurrent region (includes BMPR1A)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15147538; dbVar:nssv16254802; dbVar:nssv15146421; dbVar:nssv15146697; dbVar:nssv15147099; dbVar:nssv16254684; dbVar:nssv15150664; dbVar:nssv15150278; nssv16208280; dbVar:nssv16254801; dbVar:nssv17976899; dbVar:nssv15146755; dbVar:nssv15147101; dbVar:nssv15146424; dbVar:nssv15147104; dbVar:nssv15147103; HI3:ISCA-37424; dbVar:nssv15125151; dbVar:nssv15148042; dbVar:nssv15606039; dbVar:nssv15149559; dbVar:nssv15150260; dbVar:nssv18329495; dbVar:nssv15152295; dbVar:nssv18326418
po_P_loss_coord : 10:12787208-133613639; 10:79689361-87223773; 10:79697997-87493673; 10:79719430-87358394; 10:79802023-87068261; 10:79802023-87358394; 10:79825546-87341943; 10:79838012-87191590; 10:79857505-87221204; 10:79857505-87387023; 10:79870713-87221204; 10:79881239-87180672; 10:79882163-87068261; 10:79898517-86964367; 10:79898517-87109827; 10:79898517-87358394; 10:79923088-86979631; 10:79925607-133787422; 10:79925614-86951708; 10:79938056-87009090; 10:80132656-86963195; 10:80253505-87406698; 10:80835717-91782659; 10:81619486-91459412; 10:81773905-90153320
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.INS.DUP.1239; HPRC:pbsv.INS.DUP.6[...]B_gain_source : CMRI:0_pbsv.INS.DUP.1239; HPRC:pbsv.INS.DUP.6890; IMH; gnomAD-SV_v3_DUP_chr10_008676ef
B_gain_coord : 10:83907422-83907708; chr10:83907451-83907659; 10:83907452-83907658; chr10:83907452-83907658
B_gain_AFmax : 0.7371
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:53764413-94620402; chr10:59459006-109812369; chr10:83906250-83911577
B_loss_AFmax : 0.3941
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr10:83907451-83907659 gnomAD-SV_v3_DUP_chr10_008676ef; chr10:83907452-83907658 HPRC:pbsv.INS.DUP.6890
po_B_gain_someG_coord : 10:83907422-83907708 IMH; 10:83907452-83907658 CMRI:0_pbsv.INS.DUP.1239
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2;
po_B_loss_someG_coord : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:83906250-83911577 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 10:83907141-83907661; 10:83907671-83907726
Repeat_type_left : LTR69; MLT1G
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 10:83907141-83907661; 10:83907671-83907726
Repeat_type_right : LTR69; MLT1G
Gap_right : .
GC_content_right : 0.355
CHM13,HG00621,HG00673,HG00741,HG01106,HG01175[...]Samples_ID : CHM13,HG00621,HG00673,HG00741,HG01106,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02055,HG02080,HG02145,HG02148,HG02486,HG02559,HG02622,HG02818,HG02886,HG03492,HG03540,NA20129,NA21309
>48105735>48105732ID : >48105735>48105732
CREF : C
CTATAATCTAAGCTGTTCTTGTAAGGGGAAGCTTTATTTTAAGGT[...]ALT : CTATAATCTAAGCTGTTCTTGTAAGGGGAAGCTTTATTTTAAGGTTCATGATAGTTGGATCTGTGCTGAGGTGGTCTTGCCTCCTGGAAATCTCCAGTCTAGGCTGCATGACACTGCTAAGTGACACATAGGGTAGGCCCTACAAGATATTTGCAAGGGCCTTATGGCTGTCATTATTCTTATAGTCACAATATGTCTATTATAGTATAC
60QUAL : 60
.FILTER : .
AC=34; AF=0.382022; AN=89; AT=>48105735>[...]INFO : AC=34; AF=0.382022; AN=89; AT=>48105735>48105732,>48105735>48105734>48105733>48105732; LV=0; NS=45; e=83907657; s=209; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
1|1HG00621 : 1|1
1|1HG00673 : 1|1
0|0HG00733 : 0|0
0|0HG00735 : 0|0
1|1HG00741 : 1|1
0|0HG01071 : 0|0
1|0HG01106 : 1|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
1|1HG01175 : 1|1
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|1HG01928 : 0|1
1|0HG01952 : 1|0
1|1HG01978 : 1|1
0|1HG02055 : 0|1
1|0HG02080 : 1|0
0|0HG02109 : 0|0
0|1HG02145 : 0|1
0|1HG02148 : 0|1
0|0HG02257 : 0|0
1|0HG02486 : 1|0
1|1HG02559 : 1|1
0|0HG02572 : 0|0
1|1HG02622 : 1|1
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|1HG02818 : 0|1
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|1HG03492 : 1|1
0|0HG03516 : 0|0
1|1HG03540 : 1|1
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
1|1NA21309 : 1|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 138
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02640
Closest_right : PBLD
.Location : .
CytoBand : q21.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15171419; dbVar:nssv15161644; dbVar:nssv15171420; dbVar:nssv15161670; nssv15161864; dbVar:nssv18830975; dbVar:nssv15148014; dbVar:nssv15148838; dbVar:nssv15132882; dbVar:nssv15153829
po_P_gain_coord : 10:27297-133786996; 10:47358-133565414; 10:52148-133740558; 10:54088-133613639; 10:11096730-133613639; 10:42685307-73715908; 10:50729368-87147204; 10:67196568-79422057; 10:67280609-91435236
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18830989; dbVar:nssv15146419; dbVar:nssv15134816; dbVar:nssv15151903; dbVar:nssv17969411
po_P_loss_coord : 10:12787208-133613639; 10:58436467-74415216; 10:63402580-75296099; 10:66634654-68913719; 10:66975497-77125956
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:18_pbsv.INS.DUP.1366_duplicate1; HPRC:pb[...]B_gain_source : CMRI:18_pbsv.INS.DUP.1366_duplicate1; HPRC:pbsv.INS.DUP.6027; dbVar
B_gain_coord : chr10:67503885-68318029; chr10:68099008-68297411; chr10:68214112-68304911; 10:68262322-68262458; chr10:68262322-68262458
B_gain_AFmax : 0.1845
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr10_a13546d2; gnomAD-SV_v3_DEL_chr10_e433cf8f; gnomAD-SV_v3_DEL_chr10_f70efaa2
B_loss_coord : chr10:37996824-76847693; chr10:53764413-94620402; chr10:59459006-109812369; chr10:68255059-68266255
B_loss_AFmax : 0.3941
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr10:68099008-68297411 dbVar; 10:68262322-68262458 CMRI:18_pbsv.INS.DUP.1366_duplicate1;
po_B_gain_someG_coord : chr10:67503885-68318029 dbVar; chr10:68214112-68304911 dbVar; chr10:68262322-68262458 HPRC:pbsv.INS.DUP.6027
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr10:53764413-94620402 gnomAD-SV_v3_DEL_chr10_e433cf8f; chr10:68255059-68266255 dbVar
po_B_loss_someG_coord : chr10:37996824-76847693 gnomAD-SV_v3_DEL_chr10_a13546d2; chr10:59459006-109812369 gnomAD-SV_v3_DEL_chr10_f70efaa2
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 10:68262282-68262580
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 10:68262282-68262580
Repeat_type_right : AluY
Gap_right : .
GC_content_right : 0.535
CHM13,HG00438,HG00621,HG00735,HG01123,HG01361[...]Samples_ID : CHM13,HG00438,HG00621,HG00735,HG01123,HG01361,HG01928,HG01952,HG01978,HG02109,HG02148,HG03492,NA21309
>44942997>44942999ID : >44942997>44942999
AREF : A
AAAAATATACAAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTA[...]ALT : AAAAATATACAAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAA
60QUAL : 60
.FILTER : .
AC=14; AF=0.157303; AN=89; AT=>44942997>[...]INFO : AC=14; AF=0.157303; AN=89; AT=>44942997>44942999,>44942997>44942998>44942999; LV=0; NS=45; e=68262402; s=138; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
1|0HG00438 : 1|0
0|1HG00621 : 0|1
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|1HG00735 : 0|1
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|1HG01123 : 0|1
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
1|0HG01361 : 1|0
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|0HG01952 : 1|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|1HG02109 : 0|1
0|0HG02145 : 0|0
0|1HG02148 : 0|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|1HG03492 : 1|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|1NA21309 : 0|1
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 335
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FAM240B
Closest_right : LOC105376043
.Location : .
CytoBand : p13.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv15776689; dbVar:nssv15131984
po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:34542638-67920552; 9:35623501-38815474
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17683411; dbVar:nssv17683433; dbVar:nssv17683444
po_P_loss_coord : 9:36088567-39092823; 9:36419497-39445729; 9:36426626-38787482
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681; chr9:38647003-38814003
B_loss_AFmax : 0.2226
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr9:38647003-38814003 dbVar
po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.370
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
CHM13,HG03098,HG03516Samples_ID : CHM13,HG03098,HG03516
>44516616>44516618ID : >44516616>44516618
GREF : G
GGGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT[...]ALT : GGGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGAG
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>44516616>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>44516616>44516618,>44516616>44516617>44516618; LV=0; NS=45; e=38746422; s=335; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|1HG03098 : 0|1
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|0HG03516 : 1|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 313
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SMU1
Closest_right : B4GALT1
.Location : .
CytoBand : p21.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv18326406; dbVar:nssv15169725; dbVar:nssv15168486; dbVar:nssv15168487; dbVar:nssv15128159; dbVar:nssv15127267; dbVar:nssv15148581; dbVar:nssv15146662; dbVar:nssv15148460; dbVar:nssv15168488; dbVar:nssv15150554; dbVar:nssv15146972; dbVar:nssv15147684; dbVar:nssv15146549; dbVar:nssv15147470; dbVar:nssv15145918; nssv15147428; dbVar:nssv15146171; nssv15148277; dbVar:nssv15145821; dbVar:nssv15148068; dbVar:nssv15148988; dbVar:nssv18326363; dbVar:nssv15777263; dbVar:nssv15148176; dbVar:nssv17976764; dbVar:nssv15148245; dbVar:nssv15777248; dbVar:nssv15151115; nssv15153772; nssv17970346; dbVar:nssv15151575; dbVar:nssv15777272; nssv17976989; dbVar:nssv15153773; nssv17970347; nssv17976995; dbVar:nssv16208211; dbVar:nssv15153774; dbVar:nssv15151576; dbVar:nssv17970348; dbVar:nssv15151855; dbVar:nssv15145998; dbVar:nssv15146780; nssv15152141; dbVar:nssv15147475; dbVar:nssv15147478; dbVar:nssv15147388; dbVar:nssv15148881; dbVar:nssv15147961; dbVar:nssv15146547; dbVar:nssv15146218; dbVar:nssv15146173; nssv15146806; dbVar:nssv15146953; dbVar:nssv15146966; dbVar:nssv15606053; dbVar:nssv15146486; dbVar:nssv17970351; dbVar:nssv17970355; dbVar:nssv15147380; dbVar:nssv15142058; dbVar:nssv15138086; dbVar:nssv15138360; dbVar:nssv15137488; dbVar:nssv16254389
po_P_gain_coord : 9:10002-39445729; 9:10591-138217222; 9:10591-138223645; 9:10591-138231797; 9:12935-138262981; 9:12935-66233120; 9:13998-68304962; 9:13998-68401065; 9:32397-39140214; 9:46588-138172039; 9:62526-138111955; 9:163132-138231664; 9:163132-38763961; 9:193413-138114463; 9:193413-138124524; 9:193413-138159073; 9:193413-138179445; 9:193413-70630731; 9:193413-74615913; 9:193413-79877816; 9:203862-128840944; 9:203862-138125936; 9:203862-138125937; 9:203862-35903401; 9:203862-38381642; 9:203862-38472982; 9:203862-38787483; 9:203862-67915728; 9:203862-67919519; 9:203862-67920552; 9:203862-68369672; 9:203862-68370879; 9:203862-70102877; 9:203862-81540484; 9:203862-85574998; 9:203862-88130444; 9:203863-138125937; 9:204105-34151476; 9:204105-38768294; 9:204105-66233120; 9:204105-67549861; 9:204194-138179445; 9:204194-33284638; 9:204194-38741440; 9:204194-38815478; 9:213162-39092823; 9:213162-66233120; 9:214310-39156961; 9:220254-38815419; 9:353350-138125937; 9:676265-33743672; 9:7162305-37038771; 9:17132126-35567054; 9:18344606-68257015; 9:28975664-38787483; 9:31426828-68257015; 9:32192409-38311779
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr9_cfa52761
B_loss_coord : chr9:12951494-85461681
B_loss_AFmax : 0.2226
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr9:12951494-85461681 gnomAD-SV_v3_DEL_chr9_cfa52761
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 9:33092656-33093295
Repeat_type_left : L1MEg
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 9:33092656-33093295
Repeat_type_right : L1MEg
Gap_right : .
GC_content_right : 0.345
CHM13,HG02717Samples_ID : CHM13,HG02717
>42397870>42397868ID : >42397870>42397868
AREF : A
AATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT[...]ALT : AATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>42397870>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>42397870>42397868,>42397870>42397869>42397868; LV=0; NS=45; e=33093072; s=313; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
1|0HG02717 : 1|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 304
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105375709
Closest_right : LOC105375710
.Location : .
CytoBand : q23.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15161797; dbVar:nssv18326351; dbVar:nssv17970300; dbVar:nssv15161337; dbVar:nssv18330266; dbVar:nssv15161103; dbVar:nssv17977109; dbVar:nssv15161374; dbVar:nssv15154586; dbVar:nssv15161674; dbVar:nssv15161669; dbVar:nssv15161773; dbVar:nssv15161791; dbVar:nssv15161680; dbVar:nssv15161065; dbVar:nssv17976072; dbVar:nssv15161091; dbVar:nssv15161853; dbVar:nssv15161352; dbVar:nssv15161104; dbVar:nssv16255145; dbVar:nssv15161722
po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:46031341-139285494; 8:68000198-145070385; 8:69470756-145070385; 8:77480051-145068712; 8:78497115-118028392; 8:78614078-145054634; 8:83800019-145070385; 8:85766000-145070385; 8:85828926-115505898; 8:85828926-145070385; 8:85829000-141679774; 8:86300585-137022587; 8:87931153-145068712; 8:92035255-140345536; 8:94682155-145068656; 8:95484276-145070325; 8:97382874-145070385; 8:97420023-144997286; 8:100867344-145070385; 8:103306337-145068712; 8:107409346-122417399; 8:113580403-145054634
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17970321; dbVar:nssv15151541; dbVar:nssv15151850; dbVar:nssv16208869; dbVar:nssv18330293; dbVar:nssv15133980; dbVar:nssv15161519; dbVar:nssv15120344; dbVar:nssv15162472
po_P_loss_coord : 8:106020660-119729778; 8:109238715-122503546; 8:110125077-118885372; 8:110502563-122180134; 8:111222329-132656133; 8:112528343-120083041; 8:113288455-126716087; 8:113418061-120975305; 8:113495858-128027758
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr8:113255770-113895771
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr8:112829826-113940753
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr8:113255770-113895771 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr8:112829826-113940753 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.275
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.275
CHM13,HG00621,HG00735,HG01071,HG01109,HG01123[...]Samples_ID : CHM13,HG00621,HG00735,HG01071,HG01109,HG01123,HG01175,HG01258,HG01361,HG01928,HG01952,HG01978,HG02080,HG02148,HG02818,HG03492,NA18906
>40317253>40317251ID : >40317253>40317251
TREF : T
TTGTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT[...]ALT : TTGTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAAGT
60QUAL : 60
.FILTER : .
AC=22; AF=0.247191; AN=89; AT=>40317253>[...]INFO : AC=22; AF=0.247191; AN=89; AT=>40317253>40317251,>40317253>40317252>40317251; LV=0; NS=45; e=113729340; s=304; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
1|1HG00621 : 1|1
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|1HG00735 : 0|1
0|0HG00741 : 0|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
1|0HG01109 : 1|0
0|1HG01123 : 0|1
1|1HG01175 : 1|1
0|0HG01243 : 0|0
0|1HG01258 : 0|1
0|0HG01358 : 0|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|1HG02818 : 0|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|0HG03492 : 1|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 330
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : NPBWR1
Closest_right : LOC105375836
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797; dbVar:nssv15139743; dbVar:nssv15145255
po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494; 8:52523572-64283396; 8:52698007-53562665
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967
po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr8:52395916-52974749; chr8:52783971-52968651; chr8:52910629-52967647; chr8:52930374-53029828; chr8:52938447-53031293; chr8:52953971-53006121; chr8:52957488-53009070
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr8:52951984-52962579
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr8:52783971-52968651 dbVar; chr8:52930374-53029828 dbVar; chr8:52953971-53006121 dbVar;
po_B_gain_someG_coord : chr8:52395916-52974749 dbVar; chr8:52910629-52967647 dbVar; chr8:52938447-53031293 dbVar; chr8:52957488-53009070 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr8:52951984-52962579 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 8:52961222-52962558
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 8:52961222-52962558
Repeat_type_right : LTR12C
Gap_right : .
GC_content_right : 0.520
CHM13,HG01928Samples_ID : CHM13,HG01928
>38524549>38524551ID : >38524549>38524551
TREF : T
TAGCAATAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[...]ALT : TAGCAATAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>38524549>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>38524549>38524551,>38524549>38524550>38524551; LV=0; NS=45; e=52962171; s=330; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
1|0HG01928 : 1|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 160
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : NPBWR1
Closest_right : LOC105375836
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15169207; dbVar:nssv15128680; dbVar:nssv15161801; nssv15777239; nssv17976962; dbVar:nssv15161417; nssv15161657; dbVar:nssv15161846; dbVar:nssv15169210; dbVar:nssv15161105; dbVar:nssv15161269; dbVar:nssv15161748; dbVar:nssv15161087; dbVar:nssv15161426; dbVar:nssv15161357; dbVar:nssv15777249; dbVar:nssv15147495; dbVar:nssv15774700; dbVar:nssv15161758; dbVar:nssv15161797; dbVar:nssv15139743; dbVar:nssv15145255; dbVar:nssv15145256
po_P_gain_coord : 8:60214-145068028; 8:63939-145078636; 8:208049-145070385; 8:208050-145070385; 8:208992-145055442; 8:214985-145068028; 8:226453-145068712; 8:241531-145049449; 8:241531-145054634; 8:241606-145054781; 8:12633491-145070385; 8:21291523-145070385; 8:32079036-145070385; 8:36580104-59618998; 8:39698139-63136530; 8:46031335-69303787; 8:46031341-139285494; 8:52523572-64283396; 8:52698007-53562665; 8:52714196-52957953
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15167540; dbVar:nssv15148967
po_P_loss_coord : 8:48909925-57910043; 8:49471779-57825470
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr8:52395916-52974749; chr8:52783971-52968651; chr8:52910629-52967647; chr8:52930374-53029828; chr8:52938447-53031293
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr8:52951984-52962579
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr8:52783971-52968651 dbVar; chr8:52930374-53029828 dbVar;
po_B_gain_someG_coord : chr8:52395916-52974749 dbVar; chr8:52910629-52967647 dbVar; chr8:52938447-53031293 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr8:52951984-52962579 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 8:52951711-52953422
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 8:52951711-52953422
Repeat_type_right : LTR12C
Gap_right : .
GC_content_right : 0.460
CHM13,HG01109,HG01891,HG02109,HG02145,HG02559[...]Samples_ID : CHM13,HG01109,HG01891,HG02109,HG02145,HG02559,HG02717,HG03098,HG03453,HG03516
>38524069>38524071ID : >38524069>38524071
TREF : T
TATTTACAAACCTTGAGCTAGATACTGAGTGCCGATTGGTGTATT[...]ALT : TATTTACAAACCTTGAGCTAGATACTGAGTGCCGATTGGTGTATTTACAATCCCTGAGCTAGACATAAAGGTTCTCCACGTCCTCACCAGAGCAGCTAGATACAGAGTGTCGATTGGTGCACTCACAAACCTTGAGCTAAACACAGGGTGCTGATTTGTGT
60QUAL : 60
.FILTER : .
AC=11; AF=0.123596; AN=89; AT=>38524069>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>38524069>38524071,>38524069>38524070>38524071; LV=0; NS=45; e=52952561; s=160; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
1|0HG01891 : 1|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|1HG02717 : 0|1
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|1HG03098 : 0|1
1|1HG03453 : 1|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|1HG03516 : 1|1
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 951
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124901814
Closest_right : PPP1R3A
.Location : .
CytoBand : q31.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv17970243; dbVar:nssv16208848; dbVar:nssv16206899; dbVar:nssv17977091; dbVar:nssv15134432
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:107343843-129309648; 7:109611004-159327017; 7:109954943-114245148; 7:112880833-114101175; 7:113569778-115093349
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv17970240; dbVar:nssv15135220; dbVar:nssv16208150; dbVar:nssv15777267; dbVar:nssv15126350; dbVar:nssv15149094; dbVar:nssv15147680; dbVar:nssv15143585; dbVar:nssv15149093; dbVar:nssv15149092
po_P_loss_coord : 7:54186-159282390; 7:101033592-119516106; 7:102196925-121278641; 7:106976962-123577860; 7:107769870-118185495; 7:108156201-123536527; 7:108862565-115331733; 7:111973342-128257263; 7:112002591-116130221; 7:112354227-120715246; 7:113519230-115093286
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr7_2d27b477
B_loss_coord : chr7:113674831-118703773
B_loss_AFmax : 0.0140
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr7:113674831-118703773 gnomAD-SV_v3_DEL_chr7_2d27b477
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 7:113714286-113714684
Repeat_type_left : Tigger3b
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 7:113714286-113714684
Repeat_type_right : Tigger3b
Gap_right : .
GC_content_right : 0.360
CHM13,HG00733,HG00735,HG00741,HG01071,HG01109[...]Samples_ID : CHM13,HG00733,HG00735,HG00741,HG01071,HG01109,HG01123,HG01175,HG01243,HG01358,HG01361,HG01978,HG02148,HG02257,HG02559,HG03492
>35271359>35271362ID : >35271359>35271362
ATREF : AT
AATTTTAGAGTATAAATGAAACTCCAGTTACCTTTCTCTAGCATT[...]ALT : AATTTTAGAGTATAAATGAAACTCCAGTTACCTTTCTCTAGCATTTTGCAGTGTCCCTATGTACTGTAATAGTCATTAAGGGCAGTAAATTTAGCTACTGCATTCTGAAATCAAAGAAATATCCTTATTGTTGGATTACTAGTTGTTGGCATCTCATATCAGCTCCAGTTTTATGTTAATAGGTGTGTGTGTGTATAGTCATGTGTTGCTGAAAAACAGTGATACTCTCTGAGAAATGCATTGGTGATTTTGCCATTGTGCAAACAGCATAAGGTGAACTTACACAAACCTAGGTGGCACAGCCTGCTACACACCTAGACTATATGGTATGGCCTGTTGCTCCTAGGCTACACATCTGTACAGCATGTTACTGTACTGAAACTGTAGGCAATTGTAACACAATGGTAAGTATTCGTGAATCTAAACATATTTAAACAGAAAAGATGCAGTAAAAAATACGGTATAAAAGATACCAAATGGTACACGTGTATAGGGCACTTACAATGATTGGAGCTTACAGGACTGGAAGCTGCTCTAGGTGAGTGGTGAGCGAATGTAAAGGCCTAGGACATTACTGCACACTACTGTAGAATTTGCAAACACTGTACCCTCACGTTACACTCAATTTATTAAAAAAATTATTTCTTCAGTAATAAATTACCCTTAGCTTACTGTAATATTTTACTTCATAAACTTTTAATTTAAATAGCTTGACTTGTAATAACACTTAACTTAAAACACAAACACCTTGTAGAGCTATACAAAACTATTTTATCTTCTTATTCTATAAGCTTTTTTCCAGTTTTAAAGTTTGTAATTTTTAAAAAATTCTTAATCTTTTTTGTTAAAACCTAAGGCACAAACACACACATGCTAGGCCTACGTAGGGTCAGGGTATCACTGTTTTCCACCTCCACATCTTGTCCAACTGGAAGGTCTTCAGGGTCAATAAC
60QUAL : 60
.FILTER : .
AC=20; AF=0.224719; AN=89; AT=>35271359>[...]INFO : AC=20; AF=0.224719; AN=89; AT=>35271359>35271361>35271362,>35271359>35271360>35271362; LV=0; NS=45; e=113714287; s=952; rC=DNA/misc
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|1HG00733 : 1|1
1|1HG00735 : 1|1
1|1HG00741 : 1|1
1|0HG01071 : 1|0
0|0HG01106 : 0|0
1|1HG01109 : 1|1
1|0HG01123 : 1|0
0|1HG01175 : 0|1
1|0HG01243 : 1|0
0|0HG01258 : 0|0
1|0HG01358 : 1|0
0|1HG01361 : 0|1
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
1|0HG01978 : 1|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|1HG02257 : 0|1
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 327
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02903
Closest_right : EIF3IP1
.Location : .
CytoBand : q31.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15777247; dbVar:nssv15168013; dbVar:nssv15161666; nssv15161679; dbVar:nssv15168014; dbVar:nssv15147343; dbVar:nssv15153681; dbVar:nssv17970243
po_P_gain_coord : 7:10366-159327017; 7:10705-159329842; 7:43362-159327017; 7:44936-159333620; 7:97419853-158923762; 7:99095766-159327017; 7:107343843-129309648
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161318; dbVar:nssv17970239; dbVar:nssv17970240; dbVar:nssv15132621; dbVar:nssv15135220; dbVar:nssv15122028; dbVar:nssv16208150; dbVar:nssv15777267; dbVar:nssv15126350; dbVar:nssv15125914; dbVar:nssv15149094
po_P_loss_coord : 7:54186-159282390; 7:99819849-111946253; 7:101033592-119516106; 7:101807150-112414850; 7:102196925-121278641; 7:106261940-111228036; 7:106976962-123577860; 7:107769870-118185495; 7:108156201-123536527; 7:108172813-111974915; 7:108862565-115331733
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr7:108891186-108912785
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr7:108891186-108912785 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.355
CHM13,HG00438,HG00673,HG01175,HG01243,HG01978[...]Samples_ID : CHM13,HG00438,HG00673,HG01175,HG01243,HG01978,HG02080,HG02148,HG03492
>36680178>36680176ID : >36680178>36680176
TREF : T
TAGCAGTGACGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA[...]ALT : TAGCAGTGACGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT
60QUAL : 60
.FILTER : .
AC=10; AF=0.11236; AN=89; AT=>36680178>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>36680178>36680176,>36680178<36680177>36680176; LV=0; NS=45; e=108911158; s=327; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|1HG00438 : 0|1
0|0HG00621 : 0|0
1|0HG00673 : 1|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|1HG01175 : 0|1
1|0HG01243 : 1|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|1HG01978 : 0|1
0|0HG02055 : 0|0
0|1HG02080 : 0|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|1HG02148 : 1|1
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|1HG03492 : 0|1
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 160
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124901394
Closest_right : TPD52L1
.Location : .
CytoBand : q22.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv15135714; dbVar:nssv15125076; dbVar:nssv15142088
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:117607148-126699980; 6:121010905-145926272; 6:123959239-155794038
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15148922; dbVar:nssv15146226; dbVar:nssv18841926; dbVar:nssv15147044; dbVar:nssv17976930; dbVar:nssv15132441; dbVar:nssv15150225; dbVar:nssv17970144; dbVar:nssv17956279
po_P_loss_coord : 6:106503720-125781219; 6:108944900-132067720; 6:113857249-130442177; 6:115601231-128514324; 6:115941809-133892653; 6:118975016-125713307; 6:122291496-131243323; 6:122518288-128480241; 6:124716330-129173650
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:125125672-125127113
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:125125672-125127113
Repeat_type_right : LTR12C
Gap_right : .
GC_content_right : 0.560
CHM13,HG00741,HG01106,HG01891,HG02055,HG02109[...]Samples_ID : CHM13,HG00741,HG01106,HG01891,HG02055,HG02109,HG02257,HG02486,HG02559,HG02622,HG02630,HG02717,HG02818,HG03098,HG03453,HG03516,HG03579,NA18906,NA20129,NA21309
>32014608>32014605ID : >32014608>32014605
GREF : G
GTCTAGCTAGGGGATTGTAAATACACCAATCGGCATGCTGTATCT[...]ALT : GTCTAGCTAGGGGATTGTAAATACACCAATCGGCATGCTGTATCTAGCTCAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAGGGTTTGTGAATGCACCAATCGACACTCTGTATCTAGTTACTCTGGTGGGGACTTGGAGAACCTTTATG
60QUAL : 60
.FILTER : .
AC=23; AF=0.258427; AN=89; AT=>32014608>[...]INFO : AC=23; AF=0.258427; AN=89; AT=>32014608>32014605,>32014608>32014607>32014606>32014605; LV=0; NS=45; e=125126350; s=160; rC=LTR/ERV
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|1HG00741 : 0|1
0|0HG01071 : 0|0
0|1HG01106 : 0|1
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
1|0HG02055 : 1|0
0|0HG02080 : 0|0
1|1HG02109 : 1|1
0|0HG02145 : 0|0
0|0HG02148 : 0|0
1|0HG02257 : 1|0
1|0HG02486 : 1|0
1|0HG02559 : 1|0
0|0HG02572 : 0|0
0|1HG02622 : 0|1
1|1HG02630 : 1|1
1|0HG02717 : 1|0
0|0HG02723 : 0|0
1|0HG02818 : 1|0
0|0HG02886 : 0|0
1|0HG03098 : 1|0
1|0HG03453 : 1|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
1|1HG03516 : 1|1
0|0HG03540 : 0|0
1|0HG03579 : 1|0
1|1NA18906 : 1|1
1|0NA20129 : 1|0
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 180
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR3144
Closest_right : LOC105377977
.Location : .
CytoBand : q22.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv17956430; dbVar:nssv15135714
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:117120641-123028527; 6:117607148-126699980
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147433; dbVar:nssv15148922; dbVar:nssv15146226; dbVar:nssv15125331; dbVar:nssv18830988; dbVar:nssv18841926; dbVar:nssv15147044; dbVar:nssv15127345; dbVar:nssv17976930; dbVar:nssv16296931; dbVar:nssv15132441
po_P_loss_coord : 6:96609995-122161548; 6:106503720-125781219; 6:108944900-132067720; 6:111748243-120673518; 6:112392653-123784039; 6:113857249-130442177; 6:115601231-128514324; 6:115717218-123631054; 6:115941809-133892653; 6:116413397-123326959; 6:118975016-125713307
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
CMRI:0_pbsv.INS.DUP.1543; HPRC:pbsv.INS.DUP.7[...]B_gain_source : CMRI:0_pbsv.INS.DUP.1543; HPRC:pbsv.INS.DUP.7830; IMH; gnomAD-SV_v3_DUP_chr6_8755265f
B_gain_coord : chr6:120504095-120504276; 6:120504096-120504274; chr6:120504096-120504274; 6:120504096-120504276
B_gain_AFmax : 0.6235
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : 6:120504096-120504274 CMRI:0_pbsv.INS.DUP.1543; 6:120504096-120504276 IMH
po_B_gain_someG_coord : chr6:120504095-120504276 gnomAD-SV_v3_DUP_chr6_8755265f; chr6:120504096-120504274 HPRC:pbsv.INS.DUP.7830
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:120503751-120504123; 6:120504124-120504545
Repeat_type_left : THE1C; L1M4c
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:120503751-120504123; 6:120504124-120504545
Repeat_type_right : THE1C; L1M4c
Gap_right : .
GC_content_right : 0.340
CHM13,HG00621,HG00673,HG00733,HG00735,HG01106[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00735,HG01106,HG01109,HG01123,HG01243,HG01258,HG01928,HG01952,HG01978,HG02080,HG02148
>31711457>31711454ID : >31711457>31711454
AREF : A
AGTGAGAATGGACTAATACAAATAGCTTTTTCCATCCTTTCATTT[...]ALT : AGTGAGAATGGACTAATACAAATAGCTTTTTCCATCCTTTCATTTTTGACCTATTTTGCATCTTTGGATCTCTAATTAGTCTTTTGTAGAACAAATATAGTTTGATAATTTTTTTATTCCATTCTGTCAATCTTTGTCTTTTGATTGGATGGCTTAATCCATTCATGTTTAAATTAGCAGA
60QUAL : 60
.FILTER : .
AC=17; AF=0.191011; AN=89; AT=>31711457>[...]INFO : AC=17; AF=0.191011; AN=89; AT=>31711457>31711454,>31711457<31711456<31711455>31711454; LV=0; NS=45; e=120504104; s=180; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
1|0HG00621 : 1|0
1|0HG00673 : 1|0
0|1HG00733 : 0|1
1|0HG00735 : 1|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
1|0HG01106 : 1|0
1|1HG01109 : 1|1
0|1HG01123 : 0|1
0|0HG01175 : 0|0
1|0HG01243 : 1|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|1HG01928 : 0|1
1|1HG01952 : 1|1
0|1HG01978 : 0|1
0|0HG02055 : 0|0
1|1HG02080 : 1|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 332
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107986639
Closest_right : LOC105377960
.Location : .
CytoBand : q22.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148895; dbVar:nssv16216867
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156976-170610394; 6:165633-170610382; 6:74382808-142040500; 6:100839183-116692082
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17970123; dbVar:nssv17970126; dbVar:nssv15152934; dbVar:nssv15147433; dbVar:nssv15148239; dbVar:nssv15148922; dbVar:nssv15147394; dbVar:nssv15146226; dbVar:nssv15772968; dbVar:nssv15125331; dbVar:nssv8639606; dbVar:nssv18830988; dbVar:nssv15152938; dbVar:nssv18841926
po_P_loss_coord : 6:85278711-120227541; 6:91345174-118008488; 6:94840234-116363766; 6:96609995-122161548; 6:100054890-120488154; 6:106503720-125781219; 6:107370142-115827482; 6:108944900-132067720; 6:110659873-119287231; 6:111748243-120673518; 6:112190550-117716433; 6:112392653-123784039; 6:112939841-117521663; 6:113857249-130442177
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:114901506-115170373
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr6:114901506-115170373 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:115042817-115043018
Repeat_type_left : LTR50
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:115042817-115043018
Repeat_type_right : LTR50
Gap_right : .
GC_content_right : 0.415
CHM13Samples_ID : CHM13
>31827928>31827926ID : >31827928>31827926
GREF : G
GTTCTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA[...]ALT : GTTCTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAG
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>31827928>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>31827928>31827926,>31827928>31827927>31827926; LV=0; NS=45; e=115042867; s=332; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 216
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124901292
Closest_right : LINC01012
.Location : .
CytoBand : p22.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15166692; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15148873
po_P_gain_coord : 6:60108-170745698; 6:108667-170671083; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:3224311-30657190
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr6:27535526-27745500; chr6:27650582-27702362; chr6:27661220-27678121; chr6:27661236-27692521; chr6:27666701-27680455
B_gain_AFmax : 0.01
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr6:27650582-27702362 dbVar; chr6:27661236-27692521 dbVar;
po_B_gain_someG_coord : chr6:27535526-27745500 dbVar; chr6:27661220-27678121 dbVar; chr6:27666701-27680455 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 6:27668842-27669146
Repeat_type_left : AluSp
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 6:27668842-27669146
Repeat_type_right : AluSp
Gap_right : .
GC_content_right : 0.540
CHM13,HG02559Samples_ID : CHM13,HG02559
>29246117>29246119ID : >29246117>29246119
TREF : T
TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG[...]ALT : TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>29246117>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>29246117>29246119,>29246117>29246118>29246119; LV=0; NS=45; e=27668961; s=216; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 331
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124901270
Closest_right : RNF144B
.Location : .
CytoBand : p22.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
NHLRC1 (morbid/RE=EA_enhancer); RE_gene : NHLRC1 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15166690; dbVar:nssv15132417; dbVar:nssv15166692; dbVar:nssv15154409; dbVar:nssv15772668; dbVar:nssv15161578; dbVar:nssv15161859; nssv15161868; dbVar:nssv15168255; dbVar:nssv15124407; nssv15153178; dbVar:nssv18786303; dbVar:nssv15148873
po_P_gain_coord : 6:60108-170745698; 6:106432-18360595; 6:108667-170671083; 6:156975-21955733; 6:156975-23221393; 6:156975-46789291; 6:156976-170610394; 6:165633-170610382; 6:168776-24023006; 6:820001-21699769; 6:3224311-30657190
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18329282; dbVar:nssv15151127; dbVar:nssv15773065
po_P_loss_coord : 6:12005398-22849418; 6:13693621-24225287; 6:13909895-21999975
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : DDD:19926; dbVar
B_loss_coord : chr6:18325449-18329276; chr6:18326788-18331521; 6:18326819-18331430; chr6:18327492-18328186
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr6:18326788-18331521 dbVar; chr6:18327492-18328186 dbVar
po_B_loss_someG_coord : chr6:18325449-18329276 dbVar; 6:18326819-18331430 DDD:19926
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.440
CHM13Samples_ID : CHM13
>28634204>28634206ID : >28634204>28634206
TREF : T
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTCCTAGCTTTTT
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>28634204>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>28634204>28634206,>28634204>28634205>28634206; LV=0; NS=45; e=18328176; s=331; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 129
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FBN2
Closest_right : LOC105379167
.Location : .
CytoBand : q23.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15164761; dbVar:nssv15164765; dbVar:nssv15151111; nssv15151221; dbVar:nssv15776426; dbVar:nssv15142773
po_P_gain_coord : 5:13649-181478028; 5:25330-181266343; 5:113463-181292788; 5:90653302-129981762; 5:107380657-181260337
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15151179; dbVar:nssv15143209; nssv17976344; dbVar:nssv15139660; dbVar:nssv15146464; dbVar:nssv15136701; dbVar:nssv18329255; dbVar:nssv15119917; dbVar:nssv15126271; dbVar:nssv17977106; dbVar:nssv15132436; dbVar:nssv15223194; dbVar:nssv15126199; dbVar:nssv18830828
po_P_loss_coord : 5:17628633-177148719; 5:87104184-154620440; 5:91411709-131319563; 5:106619589-156124387; 5:110687443-130103838; 5:113221695-128770606; 5:116677123-132686163; 5:123072609-130670586; 5:125661343-129564831; 5:126438407-132873967; 5:127042028-136935300; 5:127501001-135950694; 5:128464726-134666996
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr5:128588393-128602672; chr5:128590241-128597475
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr5:128590241-128597475 dbVar
po_B_loss_someG_coord : chr5:128588393-128602672 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 5:128593973-128594278; 5:128594279-128594407
Repeat_type_left : AluSp; AluSq2
Gap_left : .
GC_content_left : 0.510
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 5:128593973-128594278; 5:128594279-128594407
Repeat_type_right : AluSp; AluSq2
Gap_right : .
GC_content_right : 0.515
CHM13,HG00733,HG01071,HG01258,HG01891,HG02055[...]Samples_ID : CHM13,HG00733,HG01071,HG01258,HG01891,HG02055,HG02109,HG02145,HG02257,HG02559,HG02630,HG02717,HG02818,HG02886,HG03453,HG03486,HG03516,NA18906,NA20129
>26386322>26386324ID : >26386322>26386324
TREF : T
TGACCTCAGGTGATCCCCCTGCCTTGGCCTCCCAAAGTGCTGGGA[...]ALT : TGACCTCAGGTGATCCCCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTAATTTTTTGGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCT
60QUAL : 60
.FILTER : .
AC=19; AF=0.213483; AN=89; AT=>26386322>[...]INFO : AC=19; AF=0.213483; AN=89; AT=>26386322>26386324,>26386322>26386323>26386324; LV=1; NS=45; PS=>25662516>25796736; e=128594206; s=129; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
1|0HG00733 : 1|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
1|0HG01071 : 1|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
1|0HG01258 : 1|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|1HG01891 : 0|1
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|1HG02055 : 0|1
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|1HG02145 : 0|1
0|0HG02148 : 0|0
0|1HG02257 : 0|1
0|0HG02486 : 0|0
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|1HG02630 : 0|1
0|1HG02717 : 0|1
0|0HG02723 : 0|0
1|0HG02818 : 1|0
1|0HG02886 : 1|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
1|0HG03486 : 1|0
0|0HG03492 : 0|0
1|1HG03516 : 1|1
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
1|0NA20129 : 1|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 147
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : GC
Closest_right : NPFFR2
.Location : .
CytoBand : q13.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593; dbVar:nssv15774461; dbVar:nssv15146779; dbVar:nssv15133498
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999; 4:67377067-82070278; 4:68686089-95294456; 4:71128875-78099088
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15125766; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956; dbVar:nssv15137205; dbVar:nssv18830797; dbVar:nssv16207960; dbVar:nssv16254734; dbVar:nssv15774677; dbVar:nssv16207962
po_P_loss_coord : 4:51891815-76009719; 4:58301080-100989502; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693; 4:67799666-74240920; 4:67833056-82716065; 4:68084646-78817444; 4:70546693-86999632; 4:70696064-77383187; 4:71815163-85505079
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : dbVar
B_loss_coord : chr4:71817285-71997049
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr4:71817285-71997049 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:71863361-71863496; 4:71863491-71863535; 4:71863536-71864044
Repeat_type_left : HERVK9-int; HERVK9-int; MER9a3
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:71863361-71863496; 4:71863491-71863535; 4:71863536-71864044
Repeat_type_right : HERVK9-int; HERVK9-int; MER9a3
Gap_right : .
GC_content_right : 0.420
CHM13,HG00438,HG00621,HG00673,HG00733,HG00735[...]Samples_ID : CHM13,HG00438,HG00621,HG00673,HG00733,HG00735,HG00741,HG01071,HG01106,HG01109,HG01123,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02055,HG02080,HG02109,HG02148,HG02257,HG02486,HG02559,HG02630,HG02717,HG02723,HG02818,HG02886,HG03098,HG03492,HG03516,HG03540,NA18906,NA20129
>19881716>19881718ID : >19881716>19881718
TREF : T
TTTTACCCATTAAAATGGATAAAAACGCTTGGAGCTCTGTGATTT[...]ALT : TTTTACCCATTAAAATGGATAAAAACGCTTGGAGCTCTGTGATTTCAATGGTGATTGTGCTTTGAATCTCTGTTGTTTGTCTTTGTATAGTCTGCAGATGTGGATCCTGACTCCTGTGAGAAGTAGCTCACTGTGACAAAGCTGCCTT
60QUAL : 60
.FILTER : .
AC=54; AF=0.606742; AN=89; AT=>19881716>[...]INFO : AC=54; AF=0.606742; AN=89; AT=>19881716>19881718,>19881716<19881717>19881718; LV=0; NS=45; e=71863499; s=147; rC=LTR/ERV
GTFORMAT : GT
1CHM13 : 1
1|0HG00438 : 1|0
0|1HG00621 : 0|1
1|0HG00673 : 1|0
1|0HG00733 : 1|0
1|1HG00735 : 1|1
0|1HG00741 : 0|1
1|1HG01071 : 1|1
1|1HG01106 : 1|1
0|1HG01109 : 0|1
1|1HG01123 : 1|1
1|1HG01175 : 1|1
0|0HG01243 : 0|0
1|1HG01258 : 1|1
1|0HG01358 : 1|0
1|1HG01361 : 1|1
0|0HG01891 : 0|0
0|1HG01928 : 0|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
1|1HG02109 : 1|1
0|0HG02145 : 0|0
1|0HG02148 : 1|0
1|1HG02257 : 1|1
0|1HG02486 : 0|1
0|1HG02559 : 0|1
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|1HG02630 : 0|1
0|1HG02717 : 0|1
1|1HG02723 : 1|1
1|0HG02818 : 1|0
1|1HG02886 : 1|1
0|1HG03098 : 0|1
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|1HG03492 : 1|1
1|0HG03516 : 1|0
1|1HG03540 : 1|1
0|0HG03579 : 0|0
1|0NA18906 : 1|0
1|1NA20129 : 1|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 222
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TMPRSS11B
Closest_right : YTHDC1
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593; dbVar:nssv15774461
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999; 4:67377067-82070278
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956; dbVar:nssv15132546; dbVar:nssv15137205; dbVar:nssv18830797; dbVar:nssv16207960
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693; 4:66842409-70831557; 4:67799666-74240920; 4:67833056-82716065; 4:68084646-78817444
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:68257996-68258257; 4:68258258-68258467
Repeat_type_left : L1PB4; LTR16
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:68257996-68258257; 4:68258258-68258467
Repeat_type_right : L1PB4; LTR16
Gap_right : .
GC_content_right : 0.385
CHM13,HG01109,HG02572,HG02622,HG02886,HG03098[...]Samples_ID : CHM13,HG01109,HG02572,HG02622,HG02886,HG03098,HG03453,HG03486,NA20129
>19769160>19769162ID : >19769160>19769162
TREF : T
TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC[...]ALT : TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGCTCACGCCATTCTCCTGCCTCAGCACCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTCAGCC
60QUAL : 60
.FILTER : .
AC=8; AF=0.0898876; AN=89; AT=>19769160>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>19769160>19769162,>19769160<19769161>19769162; LV=0; NS=45; e=68258266; s=222; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|1HG01109 : 0|1
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|1HG02572 : 0|1
1|0HG02622 : 1|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
1|0HG02886 : 1|0
0|1HG03098 : 0|1
1|0HG03453 : 1|0
0|1HG03486 : 0|1
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 327
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1269A
Closest_right : LOC105377262
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr4:66517237-66695186
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr4_48ff321a
B_loss_coord : chr4:65506280-67062809; chr4:66523632-66615670
B_loss_AFmax : 0.0641
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr4:66517237-66695186 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:66523632-66615670 dbVar
po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.230
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.230
CHM13,HG02723,HG03540Samples_ID : CHM13,HG02723,HG03540
>19728935>19728937ID : >19728935>19728937
AREF : A
AACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT[...]ALT : AACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>19728935>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>19728935>19728937,>19728935<19728936>19728937; LV=0; NS=45; e=66569896; s=327; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|1HG03540 : 0|1
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 271
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105377261
Closest_right : MIR1269A
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr4_48ff321a
B_loss_coord : chr4:65506280-67062809
B_loss_AFmax : 0.0641
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.240
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.240
CHM13,HG03453,NA20129Samples_ID : CHM13,HG03453,NA20129
>19720242>19720244ID : >19720242>19720244
TREF : T
TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC[...]ALT : TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG
60QUAL : 60
.FILTER : .
AC=2; AF=0.0224719; AN=89; AT=>19720242>[...]INFO : AC=2; AF=0.0224719; AN=89; AT=>19720242>19720244,>19720242<19720243>19720244; LV=0; NS=45; e=66252147; s=271; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|1HG03453 : 0|1
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
1|0NA20129 : 1|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 6018
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : EPHA5-AS1
Closest_right : LOC105377258
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158; dbVar:nssv15132956
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794; 4:65454563-72313693
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr4_48ff321a
B_loss_coord : chr4:65506280-67062809
B_loss_AFmax : 0.0641
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr4:65506280-67062809 gnomAD-SV_v3_DEL_chr4_48ff321a
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:65712697-65714418
Repeat_type_left : L1MEf
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:65712697-65714418
Repeat_type_right : L1MEf
Gap_right : .
GC_content_right : 0.280
CHM13,NA21309Samples_ID : CHM13,NA21309
>19706480>19706483ID : >19706480>19706483
TREF : T
TAAGAAACTAACGCCCAGCGTGAGCGACGCAGAAGACGGTGATTT[...]ALT : TAAGAAACTAACGCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCAAGCCGAAGCAGGGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCAACACGAGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGACTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGATGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGAGATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCAACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAGCCAGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCTTATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAATAATAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>19706480>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19706480>19706483,>19706480<19706481<19706482>19706483; LV=0; NS=45; e=65713277; s=6018; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
1|0NA21309 : 1|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 326
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02232
Closest_right : LINC02835
.Location : .
CytoBand : q13.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15165478; dbVar:nssv15148693; dbVar:nssv15165480; dbVar:nssv15164282; dbVar:nssv15150634; dbVar:nssv15149870; nssv15151360; dbVar:nssv15120560; dbVar:nssv15145710; dbVar:nssv17956560; dbVar:nssv15153593
po_P_gain_coord : 4:11526-190107724; 4:12441-189983286; 4:49557-189994495; 4:49557-190042611; 4:68454-65574904; 4:68455-190036318; 4:51831623-66991489; 4:51831623-97505618; 4:52000779-142661354; 4:63839784-72603999
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17173265; dbVar:nssv15165214; dbVar:nssv15125766; dbVar:nssv15755202; dbVar:nssv17969950; dbVar:nssv15141158
po_P_loss_coord : 4:51891815-76009719; 4:57466129-70721898; 4:58301080-100989502; 4:60739739-67897225; 4:61001838-73845800; 4:65151858-75851794
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr4:65201484-65206491
B_gain_AFmax : 0.01
B_loss_source : dbVar
B_loss_coord : chr4:65199320-65208213; chr4:65201484-65206491
B_loss_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr4:65201484-65206491 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr4:65201484-65206491 dbVar
po_B_loss_someG_coord : chr4:65199320-65208213 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 4:65204036-65204415
Repeat_type_left : MamRTE1
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 4:65204036-65204415
Repeat_type_right : MamRTE1
Gap_right : .
GC_content_right : 0.385
CHM13,HG02622Samples_ID : CHM13,HG02622
>19691368>19691370ID : >19691368>19691370
AREF : A
ATCCTGTGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG[...]ALT : ATCCTGTGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
60QUAL : 60
.FILTER : .
AC=1; AF=0.011236; AN=89; AT=>19691368>[...]INFO : AC=1; AF=0.011236; AN=89; AT=>19691368>19691370,>19691368>19691369>19691370; LV=0; NS=45; e=65203969; s=326; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
1|0HG02622 : 1|0
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 282
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105374037
Closest_right : LOC151760
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15162889; dbVar:nssv15164144; dbVar:nssv15149891; nssv15151839; dbVar:nssv15148953; dbVar:nssv15148025; dbVar:nssv15146976
po_P_gain_coord : 3:18497-198221156; 3:19818-198111391; 3:20215-198125115; 3:93800621-145695381; 3:103426883-198110178; 3:104621221-116093884
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15147282; dbVar:nssv15146259; dbVar:nssv18842017; dbVar:nssv15147452; dbVar:nssv15128639; dbVar:nssv16207911; dbVar:nssv15149305; dbVar:nssv17976878; dbVar:nssv18330718; dbVar:nssv15119835
po_P_loss_coord : 3:93819624-116887056; 3:93886672-123216683; 3:93979548-124774010; 3:97795370-115663349; 3:101431894-116529740; 3:102093402-112455638; 3:105375991-117723106; 3:106879921-115985849; 3:107340859-115286409; 3:108242573-116169331
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr3:110529680-111046402
B_gain_AFmax : 0.01
B_loss_source : dbVar; gnomAD-SV_v3_DEL_chr3_9b8d4286
B_loss_coord : chr3:11110259-145805573; chr3:108633893-111492183
B_loss_AFmax : 0.0446
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr3:110529680-111046402 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr3:108633893-111492183 dbVar
po_B_loss_someG_coord : chr3:11110259-145805573 gnomAD-SV_v3_DEL_chr3_9b8d4286
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.240
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.240
CHM13,HG00621,HG00673,HG00733,HG00741,HG01071[...]Samples_ID : CHM13,HG00621,HG00673,HG00733,HG00741,HG01071,HG01109,HG01175,HG01258,HG01358,HG01361,HG01928,HG01952,HG01978,HG02055,HG02080,HG02148,HG02717,HG02723,HG02818,HG03453,HG03486,HG03492,HG03540
>13234392>13234390ID : >13234392>13234390
CREF : C
CTTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAG[...]ALT : CTTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCAAGTGGCTGGAATTACAGGCATGGGCCACCATACTTGGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCCACCCCACCTTGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACAGCGCTTGGCCCCCCCTGTTTTTTTTTAACAAATGAGAAATAAGAAAAGTGG
60QUAL : 60
.FILTER : .
AC=35; AF=0.393258; AN=89; AT=>13234392>[...]INFO : AC=35; AF=0.393258; AN=89; AT=>13234392>13234390,>13234392<13234391>13234390; LV=0; NS=45; e=110694547; s=282; rC=SINE/Alu
GTFORMAT : GT
1CHM13 : 1
0|0HG00438 : 0|0
0|1HG00621 : 0|1
1|1HG00673 : 1|1
0|1HG00733 : 0|1
0|0HG00735 : 0|0
0|1HG00741 : 0|1
0|1HG01071 : 0|1
0|0HG01106 : 0|0
1|1HG01109 : 1|1
0|0HG01123 : 0|0
1|1HG01175 : 1|1
0|0HG01243 : 0|0
1|1HG01258 : 1|1
0|1HG01358 : 0|1
1|1HG01361 : 1|1
0|0HG01891 : 0|0
1|1HG01928 : 1|1
1|1HG01952 : 1|1
1|1HG01978 : 1|1
1|1HG02055 : 1|1
1|1HG02080 : 1|1
0|0HG02109 : 0|0
0|0HG02145 : 0|0
1|0HG02148 : 1|0
0|0HG02257 : 0|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|0HG02572 : 0|0
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|1HG02717 : 0|1
0|1HG02723 : 0|1
0|1HG02818 : 0|1
0|0HG02886 : 0|0
0|0HG03098 : 0|0
1|0HG03453 : 1|0
1|0HG03486 : 1|0
1|1HG03492 : 1|1
0|0HG03516 : 0|0
1|0HG03540 : 1|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 319
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105373855
Closest_right : LOC101927960
.Location : .
CytoBand : q34
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv16207855; dbVar:nssv17969793; dbVar:nssv16254741; dbVar:nssv15147432; dbVar:nssv18842075; dbVar:nssv15755802; dbVar:nssv15147151; dbVar:nssv15148951; dbVar:nssv15145778; dbVar:nssv15145678; dbVar:nssv15152823
po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:162376653-211062464; 2:168973465-214656712; 2:177533232-242065306; 2:180513794-224302848; 2:185833778-223053393; 2:188062202-224433936; 2:188818196-242065208; 2:189436150-241841232; 2:190310737-241892770; 2:194898784-236473913; 2:204304426-218284570
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124851; dbVar:nssv17976941; dbVar:nssv18330068; dbVar:nssv15145974; dbVar:nssv15148999; dbVar:nssv15148911; dbVar:nssv16253926; dbVar:nssv15137579; dbVar:nssv15136737; dbVar:nssv15121130
po_P_loss_coord : 2:50659295-242160331; 2:184832933-212137349; 2:189045179-208603658; 2:192938827-215705052; 2:199937274-210031924; 2:199946495-209985195; 2:203580897-211716063; 2:204906844-210031449; 2:207058887-211245603; 2:208179266-209331482
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
B_loss_source : gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659
B_loss_AFmax : 0.0146
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.315
CHM13,HG02257,HG02486,HG02559,HG02572,HG02622[...]Samples_ID : CHM13,HG02257,HG02486,HG02559,HG02572,HG02622,NA18906,NA20129
>11528771>11528773ID : >11528771>11528773
TREF : T
TCGAGGTAGAGGCCGGGCGCGGTGGCTCACGTCTGTAATGCCAGC[...]ALT : TCGAGGTAGAGGCCGGGCGCGGTGGCTCACGTCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAT
60QUAL : 60
.FILTER : .
AC=8; AF=0.0898876; AN=89; AT=>11528771>[...]INFO : AC=8; AF=0.0898876; AN=89; AT=>11528771>11528773,>11528771>11528772>11528773; LV=0; NS=45; e=208530881; s=319; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
1|0HG02257 : 1|0
1|0HG02486 : 1|0
0|1HG02559 : 0|1
0|1HG02572 : 0|1
0|1HG02622 : 0|1
0|0HG02630 : 0|0
0|0HG02717 : 0|0
0|0HG02723 : 0|0
0|0HG02818 : 0|0
0|0HG02886 : 0|0
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|1NA18906 : 0|1
1|1NA20129 : 1|1
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 324
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FZD5
Closest_right : PLEKHM3
.Location : .
CytoBand : q33.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv16207855; dbVar:nssv17969793; dbVar:nssv16254741; dbVar:nssv15147432; dbVar:nssv18842075; dbVar:nssv15755802; dbVar:nssv15147151; dbVar:nssv15148951; dbVar:nssv15145778; dbVar:nssv15145678; dbVar:nssv15152823
po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:162376653-211062464; 2:168973465-214656712; 2:177533232-242065306; 2:180513794-224302848; 2:185833778-223053393; 2:188062202-224433936; 2:188818196-242065208; 2:189436150-241841232; 2:190310737-241892770; 2:194898784-236473913; 2:204304426-218284570
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124851; dbVar:nssv17976941; dbVar:nssv18330068; dbVar:nssv15145974; dbVar:nssv15148999; dbVar:nssv15148911; dbVar:nssv17969803; dbVar:nssv16253926; dbVar:nssv15137579; dbVar:nssv15136737
po_P_loss_coord : 2:50659295-242160331; 2:184832933-212137349; 2:189045179-208603658; 2:192938827-215705052; 2:199937274-210031924; 2:199946495-209985195; 2:199986357-208189543; 2:203580897-211716063; 2:204906844-210031449; 2:207058887-211245603
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr2:207552359-207834863
B_gain_AFmax : 0.01
B_loss_source : gnomAD-SV_v3_DEL_chr2_d8522047
B_loss_coord : chr2:148424217-233186659
B_loss_AFmax : 0.0146
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr2:207552359-207834863 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr2:148424217-233186659 gnomAD-SV_v3_DEL_chr2_d8522047
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 2:207793360-207793665; 2:207793666-207793930
Repeat_type_left : AluSg; L1ME2
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 2:207793360-207793665; 2:207793666-207793930
Repeat_type_right : AluSg; L1ME2
Gap_right : .
GC_content_right : 0.380
CHM13,HG01106,HG02109,HG02486,HG02572,HG02622[...]Samples_ID : CHM13,HG01106,HG02109,HG02486,HG02572,HG02622,HG02630,HG02717,HG02723,HG02886,HG03492
>11509366>11509368ID : >11509366>11509368
AREF : A
AATTATGTTGAGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC[...]ALT : AATTATGTTGAGTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAA
60QUAL : 60
.FILTER : .
AC=10; AF=0.11236; AN=89; AT=>11509366>[...]INFO : AC=10; AF=0.11236; AN=89; AT=>11509366>11509368,>11509366>11509367>11509368; LV=0; NS=45; e=207793703; s=324; rC=SINE/Alu
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|1HG01106 : 0|1
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
1|0HG02109 : 1|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
0|0HG02257 : 0|0
1|0HG02486 : 1|0
0|0HG02559 : 0|0
1|0HG02572 : 1|0
1|0HG02622 : 1|0
1|0HG02630 : 1|0
0|1HG02717 : 0|1
0|1HG02723 : 0|1
0|0HG02818 : 0|0
0|1HG02886 : 0|1
0|0HG03098 : 0|0
0|0HG03453 : 0|0
0|0HG03486 : 0|0
1|0HG03492 : 1|0
0|0HG03516 : 0|0
0|0HG03540 : 0|0
0|0HG03579 : 0|0
0|0NA18906 : 0|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0
NAACMG_class : NA
AnnotSV_ranking_score : .
AnnotSV_ranking_criteria : .
INSSV_type : INS
SV_length : 217
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124906057
Closest_right : SLC5A7
.Location : .
CytoBand : q12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv17976961; dbVar:nssv15161685; nssv15161863; dbVar:nssv15174359; dbVar:nssv15174602; dbVar:nssv15148156; dbVar:nssv15152720; dbVar:nssv15147149; dbVar:nssv15146324; dbVar:nssv15147463; dbVar:nssv15151697
po_P_gain_coord : 2:10002-242157305; 2:12772-241841232; 2:14239-242106609; 2:15673-242157305; 2:94678533-110602409; 2:95687283-113287886; 2:97672523-110211318; 2:100378511-108472871; 2:101710826-110791418; 2:106479968-111478150
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv18326420; dbVar:nssv15155128; dbVar:nssv15124851; dbVar:nssv15146967; dbVar:nssv17956361; dbVar:nssv15152708; dbVar:nssv16254438; dbVar:nssv17969746; dbVar:nssv16207824
po_P_loss_coord : 2:11364193-110608419; 2:40379903-146145196; 2:50659295-242160331; 2:105806854-114297251; 2:106404327-109451929; 2:106404327-110608419; 2:106413225-112430165; 2:107830500-109746741; 2:107883354-109746741
po_P_loss_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr2:107278045-108189618; chr2:107905718-107922536
B_gain_AFmax : 0.01
B_loss_source : 1000g; dbVar; gnomAD-SV_v3_DEL_chr2_8881e883
B_loss_coord : chr2:106014408-123234450; chr2:107905718-107922536; 2:107905719-107922536; chr2:107911844-107922094
B_loss_AFmax : 0.2151
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr2:107905718-107922536 dbVar
po_B_gain_someG_coord : chr2:107278045-108189618 dbVar
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr2:107905718-107922536 dbVar; chr2:107911844-107922094 dbVar
po_B_loss_someG_coord : chr2:106014408-123234450 gnomAD-SV_v3_DEL_chr2_8881e883; 2:107905719-107922536 1000g
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 2:107905668-107924082
Repeat_coord_left : 2:107913473-107914887
Repeat_type_left : L1MA5
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 2:107905668-107924082
Repeat_coord_right : 2:107913473-107914887
Repeat_type_right : L1MA5
Gap_right : .
GC_content_right : 0.375
CHM13,HG02257,HG02572,HG02717,HG02818,HG02886[...]Samples_ID : CHM13,HG02257,HG02572,HG02717,HG02818,HG02886,HG03098,HG03486,HG03540,HG03579,NA18906
>9705218>9705220ID : >9705218>9705220
CREF : C
CATAAAAACAGGTACATAGACTACTGAAACAGAATAGAGAACCCA[...]ALT : CATAAAAACAGGTACATAGACTACTGAAACAGAATAGAGAACCCAGAAATAAATACATGTATCTACAGCCAACTGATTTTCAACAAAGACATCAAGAATATACATTGGCAAAAGGACAGCCTCTTCAATAAGTGGTAATGAGAAAACTGGATATCCATATGCAGAAGAATAAAACTAGACCCCTATCTCTCACCATATACAAAAATAAACTCAAATGG
60QUAL : 60
.FILTER : .
AC=11; AF=0.123596; AN=89; AT=>9705218>[...]INFO : AC=11; AF=0.123596; AN=89; AT=>9705218>9705220,>9705218<9705219>9705220; LV=0; NS=45; e=107913977; s=217; rC=LINE/L1
GTFORMAT : GT
0CHM13 : 0
0|0HG00438 : 0|0
0|0HG00621 : 0|0
0|0HG00673 : 0|0
0|0HG00733 : 0|0
0|0HG00735 : 0|0
0|0HG00741 : 0|0
0|0HG01071 : 0|0
0|0HG01106 : 0|0
0|0HG01109 : 0|0
0|0HG01123 : 0|0
0|0HG01175 : 0|0
0|0HG01243 : 0|0
0|0HG01258 : 0|0
0|0HG01358 : 0|0
0|0HG01361 : 0|0
0|0HG01891 : 0|0
0|0HG01928 : 0|0
0|0HG01952 : 0|0
0|0HG01978 : 0|0
0|0HG02055 : 0|0
0|0HG02080 : 0|0
0|0HG02109 : 0|0
0|0HG02145 : 0|0
0|0HG02148 : 0|0
1|0HG02257 : 1|0
0|0HG02486 : 0|0
0|0HG02559 : 0|0
0|1HG02572 : 0|1
0|0HG02622 : 0|0
0|0HG02630 : 0|0
0|1HG02717 : 0|1
0|0HG02723 : 0|0
1|1HG02818 : 1|1
0|1HG02886 : 0|1
1|0HG03098 : 1|0
0|0HG03453 : 0|0
1|0HG03486 : 1|0
0|0HG03492 : 0|0
0|0HG03516 : 0|0
0|1HG03540 : 0|1
1|0HG03579 : 1|0
1|0NA18906 : 1|0
0|0NA20129 : 0|0
0|0NA21309 : 0|0